#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
TNFRSF8	943	broad.mit.edu	37	1	12170201	12170201	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:12170201T>A	ENST00000263932.2	+	6	838	c.616T>A	c.(616-618)Tct>Act	p.S206T	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.S95T	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	206					cellular response to mechanical stimulus (GO:0071260)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of TRAIL biosynthetic process (GO:0045556)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Brentuximab vedotin(DB08870)	GGAAGCTGCTTCTAAACTGAC	0.632																																						uc001atq.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27						c.(616-618)Tct>Act		Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.							50.0	46.0	48.0					1																	12170201		2203	4300	6503	SO:0001583	missense	943				cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane		g.chr1:12170201T>A	M83554	CCDS144.1, CCDS59989.1	1p36	2008-02-05			ENSG00000120949	ENSG00000120949		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11923	protein-coding gene	gene with protein product		153243		CD30, D1S166E		1330892, 1310894	Standard	XM_006711049		Approved	KI-1	uc001atq.3	P28908	OTTHUMG00000001827	ENST00000263932.2:c.616T>A	1.37:g.12170201T>A	ENSP00000263932:p.Ser206Thr					TNFRSF8_uc010obc.2_Missense_Mutation_p.S95T	p.S206T	NM_001243	NP_001234	P28908	TNR8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	5	838	+	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	206					B1AN79|B9EGD9|D3YTD8|Q6P4D9	Missense_Mutation	SNP	ENST00000263932.2	37	c.616T>A	CCDS144.1	.	.	.	.	.	.	.	.	.	.	.	12.89	2.074040	0.36566	.	.	ENSG00000120949	ENST00000263932;ENST00000417814	T;T	0.06608	3.28;3.28	4.09	-0.97	0.10306	.	2.771360	0.01916	N	0.040152	T	0.06735	0.0172	L	0.45581	1.43	0.09310	N	1	B;B	0.31910	0.346;0.197	B;B	0.35859	0.212;0.064	T	0.33240	-0.9876	10	0.10377	T	0.69	-7.6087	3.1242	0.06401	0.1957:0.3276:0.0:0.4767	.	95;206	D3YTD8;P28908	.;TNR8_HUMAN	T	206;95	ENSP00000263932:S206T;ENSP00000390650:S95T	ENSP00000263932:S206T	S	+	1	0	TNFRSF8	12092788	0.000000	0.05858	0.011000	0.14972	0.035000	0.12851	-1.062000	0.03468	-0.175000	0.10725	0.477000	0.44152	TCT		0.632	TNFRSF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005130.1		
TAS1R2	80834	broad.mit.edu	37	1	19181287	19181287	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:19181287C>T	ENST00000375371.3	-	3	698	c.677G>A	c.(676-678)cGc>cAc	p.R226H	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	226					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCGGGCCACGCGCTCGCCAAG	0.642																																						uc001bba.1																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45						c.(676-678)cGc>cAc		Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	Aspartame(DB00168)						39.0	35.0	37.0					1																	19181287		2203	4297	6500	SO:0001583	missense	80834				detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity	g.chr1:19181287C>T		CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.677G>A	1.37:g.19181287C>T	ENSP00000364520:p.Arg226His						p.R226H	NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	2	678	-		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)	226					Q5TZ19	Missense_Mutation	SNP	ENST00000375371.3	37	c.677G>A	CCDS187.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.397987	0.25205	.	.	ENSG00000179002	ENST00000375371	D	0.86164	-2.08	4.99	2.81	0.32909	Extracellular ligand-binding receptor (1);	0.744728	0.11544	N	0.553402	T	0.80904	0.4713	L	0.47716	1.5	0.29763	N	0.835404	B	0.26081	0.141	B	0.22880	0.042	T	0.73808	-0.3866	10	0.56958	D	0.05	.	4.9547	0.14033	0.0:0.5209:0.0:0.4791	.	226	Q8TE23	TS1R2_HUMAN	H	226	ENSP00000364520:R226H	ENSP00000364520:R226H	R	-	2	0	TAS1R2	19053874	0.000000	0.05858	0.916000	0.36221	0.037000	0.13140	0.043000	0.13971	0.651000	0.30788	0.561000	0.74099	CGC		0.642	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000006953.1		
CNKSR1	10256	broad.mit.edu	37	1	26515154	26515154	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:26515154G>A	ENST00000374253.5	+	19	1716	c.1677G>A	c.(1675-1677)caG>caA	p.Q559Q	CATSPER4_ENST00000456354.2_5'Flank|CNKSR1_ENST00000531191.1_Silent_p.Q294Q|CNKSR1_ENST00000361530.6_Silent_p.Q552Q	NM_006314.2	NP_006305.2	Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	559					Ras protein signal transduction (GO:0007265)|Rho protein signal transduction (GO:0007266)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|plasma membrane (GO:0005886)	protein binding, bridging (GO:0030674)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCACACAGCGCAGCCCAC	0.647																																					NSCLC(180;1396 2109 28270 30756 34275)	uc001bln.4																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28						c.(1675-1677)caG>caA		Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.							40.0	40.0	40.0					1																	26515154		2203	4300	6503	SO:0001819	synonymous_variant	10256				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging	g.chr1:26515154G>A	AF100153	CCDS276.1, CCDS72732.1	1p35.3	2013-01-10			ENSG00000142675	ENSG00000142675		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19700	protein-coding gene	gene with protein product		603272				9814705	Standard	NM_006314		Approved	CNK1, KSR, CNK	uc001blm.4	Q969H4	OTTHUMG00000007541	ENST00000374253.5:c.1677G>A	1.37:g.26515154G>A						CNKSR1_uc001blm.4_Silent_p.Q552Q|CNKSR1_uc009vsd.3_Silent_p.Q294Q|CNKSR1_uc009vse.3_Silent_p.Q294Q|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	p.Q559Q	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)	18	1735	+		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)	559					B1AMW9|O95381	Silent	SNP	ENST00000374253.5	37	c.1677G>A																																																																																					0.647	CNKSR1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000089943.2	NM_006314	
ZSWIM5	57643	broad.mit.edu	37	1	45553632	45553632	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:45553632G>A	ENST00000359600.5	-	2	1078	c.873C>T	c.(871-873)caC>caT	p.H291H	ZSWIM5_ENST00000464588.1_5'Flank	NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	291						extracellular space (GO:0005615)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTTCAGTGTGGTGTGCCGTGA	0.393																																						uc001cnd.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28						c.(871-873)caC>caT		Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.							163.0	151.0	154.0					1																	45553632		1850	4099	5949	SO:0001819	synonymous_variant	57643						zinc ion binding	g.chr1:45553632G>A	AB040944	CCDS41319.1	1p34.1	2010-06-16			ENSG00000162415	ENSG00000162415		"""Zinc fingers, SWIM-type"""	29299	protein-coding gene	gene with protein product						10819331	Standard	NM_020883		Approved	KIAA1511	uc001cnd.2	Q9P217	OTTHUMG00000008950	ENST00000359600.5:c.873C>T	1.37:g.45553632G>A							p.H291H	NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN			1	1101	-	Acute lymphoblastic leukemia(166;0.155)		291					Q5SXQ9	Silent	SNP	ENST00000359600.5	37	c.873C>T	CCDS41319.1																																																																																				0.393	ZSWIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024823.2	XM_046581	
AK5	26289	broad.mit.edu	37	1	78001682	78001682	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:78001682C>T	ENST00000354567.2	+	13	1842	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	AK5_ENST00000478255.1_Missense_Mutation_p.P42S|AK5_ENST00000344720.5_Missense_Mutation_p.P501S	NM_174858.2	NP_777283.1	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	527	Adenylate kinase 2.				ADP biosynthetic process (GO:0006172)|ATP metabolic process (GO:0046034)|dADP biosynthetic process (GO:0006173)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|pyrimidine ribonucleotide biosynthetic process (GO:0009220)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule organizing center (GO:0005815)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside kinase activity (GO:0019206)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGCGTCCATCCCCGTGATCGC	0.527																																						uc001dhn.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						c.(1579-1581)Ccc>Tcc		Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.							136.0	98.0	111.0					1																	78001682		2203	4300	6503	SO:0001583	missense	26289				ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity	g.chr1:78001682C>T	AF062595	CCDS675.1, CCDS676.1	1p31	2008-02-05			ENSG00000154027	ENSG00000154027		"""Adenylate kinases"""	365	protein-coding gene	gene with protein product		608009				10215863	Standard	NM_012093		Approved		uc001dhn.3	Q9Y6K8	OTTHUMG00000009796	ENST00000354567.2:c.1579C>T	1.37:g.78001682C>T	ENSP00000346577:p.Pro527Ser					AK5_uc001dho.3_Missense_Mutation_p.P501S	p.P527S	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN			12	1916	+			527					Q5U622|Q6FH66|Q7Z4T5|Q86YS0|Q8N464|Q96EC9	Missense_Mutation	SNP	ENST00000354567.2	37	c.1579C>T	CCDS675.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.547161	0.86022	.	.	ENSG00000154027	ENST00000354567;ENST00000344720;ENST00000478255	T;T;T	0.79845	-1.31;-1.31;-1.31	5.42	4.46	0.54185	.	0.077720	0.52532	D	0.000062	D	0.88262	0.6389	M	0.81239	2.535	0.58432	D	0.999998	D	0.89917	1.0	D	0.79108	0.992	D	0.89250	0.3590	10	0.87932	D	0	-10.8388	15.8679	0.79080	0.0:0.8644:0.1356:0.0	.	527	Q9Y6K8	KAD5_HUMAN	S	527;501;42	ENSP00000346577:P527S;ENSP00000341430:P501S;ENSP00000433915:P42S	ENSP00000341430:P501S	P	+	1	0	AK5	77774270	0.952000	0.32445	0.989000	0.46669	0.970000	0.65996	2.927000	0.48900	2.720000	0.93068	0.555000	0.69702	CCC		0.527	AK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026993.4	NM_174858	
MCOLN3	55283	broad.mit.edu	37	1	85498465	85498465	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:85498465C>T	ENST00000370589.2	-	6	698	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	MCOLN3_ENST00000341115.4_Missense_Mutation_p.V160M|MCOLN3_ENST00000370587.1_Missense_Mutation_p.V216M|WDR63_ENST00000370596.1_Intron	NM_018298.10	NP_060768.8	Q8TDD5	MCLN3_HUMAN	mucolipin 3	216					auditory receptor cell differentiation (GO:0042491)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|locomotory behavior (GO:0007626)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGAAGCTCCACTGTTAGGAGT	0.438																																						uc001dkp.3																			0				endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34						c.(646-648)Gtg>Atg		Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.							167.0	159.0	162.0					1																	85498465		2203	4300	6503	SO:0001583	missense	55283					integral to membrane	ion channel activity	g.chr1:85498465C>T	AF475085	CCDS701.1, CCDS58009.1	1p22.3	2011-12-16			ENSG00000055732	ENSG00000055732		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	13358	protein-coding gene	gene with protein product		607400				16382100	Standard	NM_018298		Approved	TRPML3, FLJ11006, TRP-ML3	uc001dkp.3	Q8TDD5	OTTHUMG00000009955	ENST00000370589.2:c.646G>A	1.37:g.85498465C>T	ENSP00000359621:p.Val216Met					MCOLN3_uc001dkq.3_Missense_Mutation_p.V160M|MCOLN3_uc001dkr.3_Missense_Mutation_p.V216M|MCOLN3_uc001dks.4_Missense_Mutation_p.V61M	p.V216M	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN		all cancers(265;0.00957)|Epithelial(280;0.0254)	5	793	-			216					Q5T4H5|Q5T4H6|Q9NV09	Missense_Mutation	SNP	ENST00000370589.2	37	c.646G>A	CCDS701.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039127	0.75617	.	.	ENSG00000055732	ENST00000370589;ENST00000302814;ENST00000370588;ENST00000341115;ENST00000370587	T;T;T	0.32753	1.44;1.44;1.44	5.6	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.39963	0.1098	M	0.82323	2.585	0.48830	D	0.999717	D;P;D;D	0.67145	0.996;0.915;0.985;0.99	P;B;P;P	0.60682	0.878;0.375;0.807;0.799	T	0.38265	-0.9669	10	0.30854	T	0.27	-2.7085	10.888	0.46978	0.0:0.7994:0.1303:0.0703	.	216;216;160;216	A8K841;B1ANB7;Q8TDD5-2;Q8TDD5	.;.;.;MCLN3_HUMAN	M	216;216;160;160;216	ENSP00000359621:V216M;ENSP00000342698:V160M;ENSP00000359619:V216M	ENSP00000304843:V216M	V	-	1	0	MCOLN3	85271053	0.974000	0.33945	1.000000	0.80357	0.987000	0.75469	2.439000	0.44846	1.368000	0.46115	0.650000	0.86243	GTG		0.438	MCOLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027569.2	NM_018298	
KIAA0907	22889	broad.mit.edu	37	1	155887399	155887399	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:155887399T>G	ENST00000368321.3	-	11	1354	c.1331A>C	c.(1330-1332)cAg>cCg	p.Q444P	KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q444P|SNORA42_ENST00000384744.1_RNA	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	444	Pro-rich.						RNA binding (GO:0003723)	p.Q444P(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			gggctggggctggggGCCAGC	0.562																																						uc001fmi.1																			1	Substitution - Missense(1)	p.Q444P(2)	kidney(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(1330-1332)cAg>cCg		Homo sapiens KIAA0907 (KIAA0907), mRNA.							10.0	13.0	12.0					1																	155887399		2180	4260	6440	SO:0001583	missense	22889							g.chr1:155887399T>G	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.1331A>C	1.37:g.155887399T>G	ENSP00000357304:p.Gln444Pro					KIAA0907_uc001fmj.1_Missense_Mutation_p.Q444P|KIAA0907_uc009wrl.1_Non-coding_Transcript	p.Q444P	NM_014949	NP_055764	Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		10	1355	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		444			Pro-rich.		O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.1331A>C	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	T	13.19	2.164445	0.38217	.	.	ENSG00000132680	ENST00000368321;ENST00000368320	T;T	0.27402	1.67;1.67	5.49	4.36	0.52297	.	0.380168	0.30464	N	0.009568	T	0.18215	0.0437	N	0.19112	0.55	0.44789	D	0.997794	D;D	0.64830	0.994;0.994	D;D	0.73380	0.98;0.98	T	0.05209	-1.0899	10	0.06494	T	0.89	-0.2991	11.4897	0.50373	0.0:0.0:0.1502:0.8498	.	444;444	Q7Z7F0-2;Q7Z7F0	.;K0907_HUMAN	P	444	ENSP00000357304:Q444P;ENSP00000357303:Q444P	ENSP00000357303:Q444P	Q	-	2	0	KIAA0907	154154023	0.989000	0.36119	0.998000	0.56505	0.984000	0.73092	0.594000	0.24014	0.999000	0.39023	0.533000	0.62120	CAG		0.562	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949	
INSRR	3645	broad.mit.edu	37	1	156811514	156811514	+	Missense_Mutation	SNP	C	C	T	rs139192917		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:156811514C>T	ENST00000368195.3	-	20	3866	c.3470G>A	c.(3469-3471)cGc>cAc	p.R1157H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	1157	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|cellular response to alkaline pH (GO:0071469)|male sex determination (GO:0030238)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCATCCAGCGCACGGGCAG	0.627																																						uc010pht.2																			0		p.R1157R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(3469-3471)cGc>cAc		Homo sapiens insulin receptor-related receptor (INSRR), mRNA.		C	,HIS/ARG	0,4406		0,0,2203	77.0	74.0	75.0		,3470	5.1	1.0	1	dbSNP_134	75	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense	INSRR,NTRK1	NM_001007792.1,NM_014215.2	,29	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,probably-damaging	,1157/1298	156811514	2,13004	2203	4300	6503	SO:0001583	missense	3645				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	g.chr1:156811514C>T	J05046	CCDS1160.1	1q21-q23	2013-02-11			ENSG00000027644	ENSG00000027644		"""Fibronectin type III domain containing"""	6093	protein-coding gene	gene with protein product		147671				2768234, 2249481	Standard	NM_014215		Approved	IRR	uc010pht.2	P14616	OTTHUMG00000041291	ENST00000368195.3:c.3470G>A	1.37:g.156811514C>T	ENSP00000357178:p.Arg1157His					NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	p.R1157H	NM_014215	NP_055030	P14616	INSRR_HUMAN			19	3769	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		1157			Protein kinase.		O60724|Q5VZS3	Missense_Mutation	SNP	ENST00000368195.3	37	c.3470G>A	CCDS1160.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997017	0.93167	0.0	2.33E-4	ENSG00000027644	ENST00000368195	D	0.83591	-1.74	5.07	5.07	0.68467	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.47093	D	0.000245	D	0.90342	0.6978	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91266	0.5040	9	0.87932	D	0	.	17.1753	0.86840	0.0:1.0:0.0:0.0	.	1157	P14616	INSRR_HUMAN	H	1157	ENSP00000357178:R1157H	ENSP00000357178:R1157H	R	-	2	0	INSRR	155078138	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.590000	0.82653	2.639000	0.89480	0.561000	0.74099	CGC		0.627	INSRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098929.1	NM_014215	
CD1B	910	broad.mit.edu	37	1	158299678	158299678	+	Missense_Mutation	SNP	C	C	T	rs186845827	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:158299678C>T	ENST00000368168.3	-	3	678	c.571G>A	c.(571-573)Gtc>Atc	p.V191I		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	191	Ig-like.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	cell surface (GO:0009986)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCATTGAGGACGCCCAAGAGA	0.438													C|||	2	0.000399361	0.0	0.0	5008	,	,		20608	0.001		0.0	False		,,,				2504	0.001					uc001frx.3																			0				breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30						c.(571-573)Gtc>Atc		Homo sapiens CD1b molecule (CD1B), mRNA.							143.0	132.0	136.0					1																	158299678		2203	4300	6503	SO:0001583	missense	910				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding	g.chr1:158299678C>T	M28826	CCDS1176.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158485	ENSG00000158485		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1635	protein-coding gene	gene with protein product		188360	"""CD1B antigen, b polypeptide"", ""CD1b antigen"""	CD1		2447586	Standard	NM_001764		Approved		uc001frx.3	P29016	OTTHUMG00000017513	ENST00000368168.3:c.571G>A	1.37:g.158299678C>T	ENSP00000357150:p.Val191Ile					CD1B_uc001frw.3_Missense_Mutation_p.V191I	p.V191I	NM_001764	NP_001755	P29016	CD1B_HUMAN			2	679	-	all_hematologic(112;0.0378)		191			Ig-like.		Q5TDK9|Q5TDL0|Q9UMM2	Missense_Mutation	SNP	ENST00000368168.3	37	c.571G>A	CCDS1176.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	9.413|9.413	1.081067|1.081067	0.20309|0.20309	.|.	.|.	ENSG00000158485|ENSG00000158485	ENST00000451207|ENST00000368168	.|T	.|0.06608	.|3.28	4.46|4.46	-4.34|-4.34	0.03666|0.03666	.|Immunoglobulin-like (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.|0.761563	.|0.11226	.|N	.|0.586174	T|T	0.01254|0.01254	0.0041|0.0041	L|L	0.35414|0.35414	1.06|1.06	0.09310|0.09310	N|N	1|1	.|B;B	.|0.27450	.|0.007;0.179	.|B;B	.|0.12156	.|0.004;0.007	T|T	0.44937|0.44937	-0.9295|-0.9295	5|10	.|0.59425	.|D	.|0.04	-16.7626|-16.7626	5.5789|5.5789	0.17238|0.17238	0.0:0.2357:0.4053:0.359|0.0:0.2357:0.4053:0.359	.|.	.|191;191	.|P29016;P29016-2	.|CD1B_HUMAN;.	H|I	158|191	.|ENSP00000357150:V191I	.|ENSP00000357150:V191I	R|V	-|-	2|1	0|0	CD1B|CD1B	156566302|156566302	0.001000|0.001000	0.12720|0.12720	0.000000|0.000000	0.03702|0.03702	0.012000|0.012000	0.07955|0.07955	-0.890000|-0.890000	0.04140|0.04140	-0.601000|-0.601000	0.05783|0.05783	-0.136000|-0.136000	0.14681|0.14681	CGT|GTC		0.438	CD1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046350.2	NM_001764	
OR10R2	343406	broad.mit.edu	37	1	158449688	158449688	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:158449688C>G	ENST00000368152.1	+	1	21	c.21C>G	c.(19-21)ttC>ttG	p.F7L	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, 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)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTCTTATATTCACATACCTGA	0.433																																						uc010pik.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.(19-21)ttC>ttG		Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.							145.0	141.0	143.0					1																	158449688		2203	4300	6503	SO:0001583	missense	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158449688C>G	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.21C>G	1.37:g.158449688C>G	ENSP00000357134:p.Phe7Leu					AK057554_uc001fso.1_Intron	p.F7L	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN			0	21	+	all_hematologic(112;0.0378)		7					Q5VWM8|Q6IFS1|Q96R61	Missense_Mutation	SNP	ENST00000368152.1	37	c.21C>G	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	c	9.276	1.047007	0.19748	.	.	ENSG00000198965	ENST00000368152	T	0.00001	9.91	4.29	1.25	0.21368	.	.	.	.	.	T	0.00012	0.0000	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.35151	-0.9800	9	0.13470	T	0.59	.	6.74	0.23431	0.0:0.6803:0.0:0.3197	.	7	Q8NGX6	O10R2_HUMAN	L	7	ENSP00000357134:F7L	ENSP00000357134:F7L	F	+	3	2	OR10R2	156716312	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.404000	0.07205	0.414000	0.25790	0.591000	0.81541	TTC		0.433	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472	
LY9	4063	broad.mit.edu	37	1	160786529	160786529	+	Silent	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:160786529C>G	ENST00000263285.6	+	5	1248	c.1218C>G	c.(1216-1218)tcC>tcG	p.S406S	LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Silent_p.S58S|LY9_ENST00000341032.4_Intron|LY9_ENST00000392203.4_Intron|LY9_ENST00000368037.5_Silent_p.S406S			Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	406	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGTTGTGTCCCAAGGGGAAT	0.557																																						uc001fwu.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						c.(1216-1218)tcC>tcG		Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.							144.0	120.0	128.0					1																	160786529		2203	4300	6503	SO:0001819	synonymous_variant	4063				cell adhesion|immunoglobulin mediated immune response	integral to membrane		g.chr1:160786529C>G	L42621	CCDS30916.1, CCDS30917.1, CCDS65695.1, CCDS65696.1	1q23.3	2013-01-11			ENSG00000122224	ENSG00000122224		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6730	protein-coding gene	gene with protein product		600684				8537117, 7797269	Standard	NM_001261457		Approved	CD229, mLY9, SLAMF3, hly9	uc001fwu.4	Q9HBG7	OTTHUMG00000024007	ENST00000263285.6:c.1218C>G	1.37:g.160786529C>G						LY9_uc001fwv.3_Silent_p.S406S|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Silent_p.S58S	p.S406S	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00737)		4	1268	+	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		406			Ig-like C2-type 2.		A8K7N3|Q14775|Q5VYI3|Q6P2J4|Q9H4N5|Q9NQ24	Silent	SNP	ENST00000263285.6	37	c.1218C>G	CCDS30916.1																																																																																				0.557	LY9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000060457.3	NM_002348	
CR2	1380	broad.mit.edu	37	1	207648560	207648560	+	Splice_Site	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:207648560A>C	ENST00000367058.3	+	13	2727	c.2538A>C	c.(2536-2538)aaA>aaC	p.K846N	CR2_ENST00000458541.2_Splice_Site_p.K819N|CR2_ENST00000367057.3_Splice_Site_p.K905N|CR2_ENST00000367059.3_Splice_Site_p.K846N	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	846					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTATCAAAAAAGGTAAGATAC	0.398																																						uc001hfw.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.e13+1		Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.							122.0	117.0	119.0					1																	207648560		2203	4300	6503	SO:0001630	splice_region_variant	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207648560A>C	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.2539+1A>C	1.37:g.207648560A>C						CR2_uc001hfv.3_Splice_Site_p.A906_splice|CR2_uc009xch.3_Splice_Site_p.E847_splice	p.A847_splice	NM_001877	NP_001868	P20023	CR2_HUMAN			13	2658	+			847					C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.2539_splice	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020551	0.35606	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.35789	1.4;1.29;1.39;1.34	4.69	-4.85	0.03142	.	.	.	.	.	T	0.39627	0.1085	L	0.43152	1.355	0.20873	N	0.999835	P;D;D	0.69078	0.941;0.994;0.997	P;P;P	0.62491	0.701;0.786;0.903	T	0.32613	-0.9900	9	0.44086	T	0.13	.	6.1203	0.20150	0.5485:0.0:0.3217:0.1298	.	846;846;905	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	N	846;905;846;819	ENSP00000356025:K846N;ENSP00000356024:K905N;ENSP00000356026:K846N;ENSP00000404222:K819N	ENSP00000356024:K905N	K	+	3	2	CR2	205715183	0.013000	0.17824	0.015000	0.15790	0.735000	0.41995	-0.819000	0.04462	-1.005000	0.03417	-0.182000	0.12963	AAA		0.398	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877	Missense_Mutation
ATAD1	84896	broad.mit.edu	37	10	89550116	89550116	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr10:89550116G>A	ENST00000308448.7	-	4	711	c.333C>T	c.(331-333)atC>atT	p.I111I	ATAD1_ENST00000400215.3_Silent_p.I53I|ATAD1_ENST00000495903.1_5'UTR|ATAD1_ENST00000328142.3_Silent_p.I111I|ATAD1_ENST00000541004.1_Silent_p.I111I	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	111					ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GTTTCTTTTTGATAGGTAAGA	0.358																																						uc001kez.1																			0				kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10						c.(331-333)atC>atT		Homo sapiens ATPase family, AAA domain containing 1 (ATAD1), mRNA.							113.0	108.0	110.0					10																	89550116		2203	4300	6503	SO:0001819	synonymous_variant	84896					peroxisome	ATP binding|nucleoside-triphosphatase activity	g.chr10:89550116G>A	AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"""ATPases / AAA-type"""	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685	ENST00000308448.7:c.333C>T	10.37:g.89550116G>A						ATAD1_uc010qmr.1_Silent_p.I53I|ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001key.1_Silent_p.I111I	p.I111I	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)	3	712	-		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)	111					D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	Silent	SNP	ENST00000308448.7	37	c.333C>T	CCDS7386.1																																																																																				0.358	ATAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049235.1	NM_032810	
MGEA5	10724	broad.mit.edu	37	10	103557792	103557792	+	Nonsense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr10:103557792A>C	ENST00000361464.3	-	10	2324	c.1929T>G	c.(1927-1929)taT>taG	p.Y643*	MGEA5_ENST00000482611.1_5'UTR|MGEA5_ENST00000439817.1_Nonsense_Mutation_p.Y590*|MGEA5_ENST00000370094.3_Nonsense_Mutation_p.Y643*|MGEA5_ENST00000357797.5_Nonsense_Mutation_p.Y590*	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	643					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TATCCCAAACATAGGAGTACA	0.418																																						uc001ktv.2																			0				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23						c.(1927-1929)taT>taG		Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.							136.0	122.0	127.0					10																	103557792		2203	4300	6503	SO:0001587	stop_gained	10724				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity	g.chr10:103557792A>C	AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1929T>G	10.37:g.103557792A>C	ENSP00000354850:p.Tyr643*					MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Nonsense_Mutation_p.Y590*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Y590*|MGEA5_uc001ktw.2_Nonsense_Mutation_p.Y643*	p.Y643*	NM_012215	NP_036347	O60502	NCOAT_HUMAN		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)	9	2372	-		Colorectal(252;0.207)	643			Histone acetyltransferase activity (By similarity).		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Nonsense_Mutation	SNP	ENST00000361464.3	37	c.1929T>G	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	A	42	9.255784	0.99115	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.803	8.1542	0.31158	0.8468:0.0:0.1532:0.0	.	.	.	.	X	590;643;590;643	.	ENSP00000350445:Y590X	Y	-	3	2	MGEA5	103547782	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.600000	0.46240	2.197000	0.70478	0.533000	0.62120	TAT		0.418	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1	NM_012215	
Unknown	0	broad.mit.edu	37	10	135491125	135491125	+	IGR	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr10:135491125G>A								AL845259.1 (17946 upstream) : None (None downstream)																							CCACACCGGCGCGTGGGGAAC	0.781																																						uc021qbj.1																			0													Homo sapiens double homeobox 2 (DUX2), mRNA.																																				SO:0001628	intergenic_variant	653544					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr10:135491125G>A																													10.37:g.135491125G>A						DUX4L3_uc010qvh.1_Missense_Mutation_p.A246T|DUX4L3_uc021qbi.1_5'UTR		NM_012147	NP_036279	F5GZ66	F5GZ66_HUMAN					+									Missense_Mutation	SNP		37																																																																																					0	0.781								
OR51B6	390058	broad.mit.edu	37	11	5373426	5373426	+	Missense_Mutation	SNP	G	G	A	rs267602947		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:5373426G>A	ENST00000380219.1	+	1	689	c.689G>A	c.(688-690)gGa>gAa	p.G230E	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	230					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCTGGAGGAGAAAGGGCC	0.418																																						uc010qzb.2																			0		p.G230G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21						c.(688-690)gGa>gAa		Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.		G	GLU/GLY	0,4402	2.1+/-5.4	0,0,2201	216.0	193.0	200.0		689	2.8	0.6	11		200	1,8593	1.2+/-3.3	0,1,4296	no	missense	OR51B6	NM_001004750.1	98	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	benign	230/313	5373426	1,12995	2201	4297	6498	SO:0001583	missense	390058				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5373426G>A		CCDS31379.1	11p15.4	2012-08-09			ENSG00000176239	ENSG00000176239		"""GPCR / Class A : Olfactory receptors"""	19600	protein-coding gene	gene with protein product							Standard	NM_001004750		Approved		uc010qzb.2	Q9H340	OTTHUMG00000066669	ENST00000380219.1:c.689G>A	11.37:g.5373426G>A	ENSP00000369568:p.Gly230Glu					HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	p.G230E	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	0	689	+		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)	230						Missense_Mutation	SNP	ENST00000380219.1	37	c.689G>A	CCDS31379.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.287536	0.00248	0.0	1.16E-4	ENSG00000176239	ENST00000537299;ENST00000380219	T	0.00025	8.95	5.15	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	0.510762	0.17809	N	0.161291	T	0.00039	0.0001	N	0.00308	-1.67	0.23496	N	0.99755	B	0.02656	0.0	B	0.04013	0.001	T	0.34204	-0.9838	10	0.02654	T	1	.	4.5883	0.12294	0.6963:0.0:0.1599:0.1438	.	230	Q9H340	O51B6_HUMAN	E	229;230	ENSP00000369568:G230E	ENSP00000369568:G230E	G	+	2	0	OR51B6	5330002	0.000000	0.05858	0.590000	0.28732	0.231000	0.25187	0.250000	0.18235	0.389000	0.25086	-0.416000	0.06073	GGA		0.418	OR51B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142960.1	NM_001004750	
MICAL2	9645	broad.mit.edu	37	11	12225971	12225971	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:12225971G>T	ENST00000256194.4	+	4	727	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	MICAL2_ENST00000379612.3_Missense_Mutation_p.G147W|MICAL2_ENST00000527195.1_3'UTR|MICAL2_ENST00000537344.1_Missense_Mutation_p.G147W|MICAL2_ENST00000342902.5_Missense_Mutation_p.G147W|MICAL2_ENST00000527546.1_Missense_Mutation_p.G147W	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	147	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|heart development (GO:0007507)|heart looping (GO:0001947)|oxidation-reduction process (GO:0055114)|positive regulation of transcription via serum response element binding (GO:0010735)|sulfur oxidation (GO:0019417)	nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|NADPH:sulfur oxidoreductase activity (GO:0043914)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGTTCTATGGGAAGTTCTG	0.552																																						uc001mjz.3																			0				breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47						c.(439-441)Ggg>Tgg		Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.							107.0	95.0	99.0					11																	12225971		2201	4294	6495	SO:0001583	missense	9645					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr11:12225971G>T	AB018293	CCDS7809.1, CCDS60726.1, CCDS60727.1, CCDS60728.1	11p15.3	2014-08-12	2013-03-26		ENSG00000133816	ENSG00000133816			24693	protein-coding gene	gene with protein product		608881				12110185	Standard	XM_005253249		Approved	KIAA0750	uc001mjz.3	O94851	OTTHUMG00000165744	ENST00000256194.4:c.439G>T	11.37:g.12225971G>T	ENSP00000256194:p.Gly147Trp					MICAL2_uc010rch.1_Missense_Mutation_p.G147W|MICAL2_uc001mjy.3_Missense_Mutation_p.G147W|MICAL2_uc001mka.3_Missense_Mutation_p.G147W|MICAL2_uc010rci.2_Missense_Mutation_p.G147W|MICAL2_uc001mkb.3_Missense_Mutation_p.G147W|MICAL2_uc001mkc.3_Missense_Mutation_p.G147W	p.G147W	NM_014632	NP_055447	O94851	MICA2_HUMAN		Epithelial(150;0.00552)	3	727	+			147					B4DGZ0|B7Z849|D3DQW5|G3XAC8|Q5KTR3|Q5KTR4|Q7Z3A8	Missense_Mutation	SNP	ENST00000256194.4	37	c.439G>T	CCDS7809.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969133	0.92855	.	.	ENSG00000133816	ENST00000537344;ENST00000256194;ENST00000527546;ENST00000342902;ENST00000379612	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.40297	0.1111	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.998;1.0;1.0;1.0;1.0	T	0.45760	-0.9239	9	.	.	.	.	19.4289	0.94756	0.0:0.0:1.0:0.0	.	147;147;147;147;147;147	G3XAC8;B7Z849;Q5KTR3;Q5KTR4;O94851;B4DGZ0	.;.;.;.;MICA2_HUMAN;.	W	147	ENSP00000441689:G147W;ENSP00000256194:G147W;ENSP00000433965:G147W;ENSP00000344894:G147W;ENSP00000368932:G147W	.	G	+	1	0	MICAL2	12182547	1.000000	0.71417	0.992000	0.48379	0.937000	0.57800	9.835000	0.99442	2.700000	0.92200	0.563000	0.77884	GGG		0.552	MICAL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385993.1	NM_014632	
KCNC1	3746	broad.mit.edu	37	11	17757795	17757795	+	Silent	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:17757795G>T	ENST00000379472.3	+	1	276	c.246G>T	c.(244-246)gtG>gtT	p.V82V	KCNC1_ENST00000265969.6_Silent_p.V82V	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	82					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CAGCCGACGTGTGCGGGCCGC	0.677																																						uc009yhc.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(244-246)gtG>gtT		Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.							44.0	43.0	43.0					11																	17757795		2200	4292	6492	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17757795G>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.246G>T	11.37:g.17757795G>T						KCNC1_uc001mnk.4_Silent_p.V82V	p.V82V	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN			0	301	+			82					K4DI87	Silent	SNP	ENST00000379472.3	37	c.246G>T	CCDS7827.1																																																																																				0.677	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976	
UEVLD	55293	broad.mit.edu	37	11	18554017	18554017	+	Silent	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:18554017A>G	ENST00000396197.3	-	12	1294	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	UEVLD_ENST00000379387.4_Silent_p.N400N|UEVLD_ENST00000535484.1_3'UTR|UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000320750.6_3'UTR|UEVLD_ENST00000541984.1_3'UTR|UEVLD_ENST00000543987.1_3'UTR	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACACTTCACTATTTATATCAT	0.313																																						uc001mot.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(1264-1266)aaT>aaC		Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.							79.0	73.0	75.0					11																	18554017		2199	4293	6492	SO:0001819	synonymous_variant	55293				cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor	g.chr11:18554017A>G	AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000396197.3:c.1266T>C	11.37:g.18554017A>G						UEVLD_uc001mou.3_3'UTR|UEVLD_uc010rde.2_Silent_p.N292N|UEVLD_uc010rdf.2_Silent_p.N400N|UEVLD_uc010rdg.2_Silent_p.N292N|UEVLD_uc001mov.3_3'UTR	p.N422N	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN			11	1346	-			422						Silent	SNP	ENST00000396197.3	37	c.1266T>C	CCDS41624.1																																																																																				0.313	UEVLD-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395923.2	NM_018314	
QSER1	79832	broad.mit.edu	37	11	32955067	32955067	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:32955067C>G	ENST00000399302.2	+	4	2211	c.1876C>G	c.(1876-1878)Ctg>Gtg	p.L626V	QSER1_ENST00000527788.1_Missense_Mutation_p.L387V	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	626										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGGGGTTGCTCTGCAAGCATC	0.378																																						uc001mty.3																			0				breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48						c.(1876-1878)Ctg>Gtg		Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.							87.0	84.0	85.0					11																	32955067		1858	4093	5951	SO:0001583	missense	79832							g.chr11:32955067C>G	AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.1876C>G	11.37:g.32955067C>G	ENSP00000382241:p.Leu626Val					QSER1_uc001mtz.1_Missense_Mutation_p.L387V|QSER1_uc001mua.3_Missense_Mutation_p.L131V	p.L626V	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN			3	2143	+	Breast(20;0.158)		626					Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	ENST00000399302.2	37	c.1876C>G	CCDS41631.1	.	.	.	.	.	.	.	.	.	.	C	9.071	0.996871	0.19043	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.25912	2.11;1.77	5.01	3.1	0.35709	.	0.118979	0.35838	N	0.002955	T	0.30634	0.0771	N	0.24115	0.695	0.35960	D	0.834535	P;D;D	0.71674	0.875;0.998;0.988	B;P;P	0.60789	0.341;0.879;0.76	T	0.41502	-0.9505	10	0.66056	D	0.02	.	11.6698	0.51395	0.0:0.8479:0.0:0.1521	.	387;387;626	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	V	626;387;387	ENSP00000382241:L626V;ENSP00000432766:L387V	ENSP00000078652:L387V	L	+	1	2	QSER1	32911643	0.264000	0.24093	0.748000	0.31131	0.764000	0.43329	1.303000	0.33470	1.248000	0.43934	0.591000	0.81541	CTG		0.378	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388448.1	NM_024774	
OR5A1	219982	broad.mit.edu	37	11	59211078	59211078	+	Missense_Mutation	SNP	G	G	T	rs143071629	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:59211078G>T	ENST00000302030.2	+	1	462	c.437G>T	c.(436-438)cGc>cTc	p.R146L		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTCTGTACACGCATGGTGGTT	0.552																																						uc001nnx.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						c.(436-438)cGc>cTc		Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.							262.0	243.0	250.0					11																	59211078		2201	4295	6496	SO:0001583	missense	219982				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:59211078G>T	AB065804	CCDS31561.1	11q12.1	2012-08-09			ENSG00000172320	ENSG00000172320		"""GPCR / Class A : Olfactory receptors"""	8319	protein-coding gene	gene with protein product				OR5A1P			Standard	NM_001004728		Approved	OST181	uc001nnx.1	Q8NGJ0	OTTHUMG00000167339	ENST00000302030.2:c.437G>T	11.37:g.59211078G>T	ENSP00000303096:p.Arg146Leu						p.R146L	NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN			0	437	+			146					B9EH58|Q6IFF2|Q96RB1	Missense_Mutation	SNP	ENST00000302030.2	37	c.437G>T	CCDS31561.1	.	.	.	.	.	.	.	.	.	.	G	8.400	0.841814	0.16963	.	.	ENSG00000172320	ENST00000302030	T	0.00032	8.88	5.98	1.51	0.23008	GPCR, rhodopsin-like superfamily (1);	0.465789	0.17798	N	0.161662	T	0.00073	0.0002	N	0.11845	0.185	0.09310	N	1	P	0.36162	0.54	B	0.38842	0.283	T	0.01781	-1.1275	10	0.07175	T	0.84	-0.7698	6.3991	0.21628	0.2648:0.0:0.6018:0.1334	.	146	Q8NGJ0	OR5A1_HUMAN	L	146	ENSP00000303096:R146L	ENSP00000303096:R146L	R	+	2	0	OR5A1	58967654	0.000000	0.05858	0.011000	0.14972	0.775000	0.43874	-0.800000	0.04555	0.412000	0.25729	0.650000	0.86243	CGC		0.552	OR5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394233.1	NM_001004728	
SF3B2	10992	broad.mit.edu	37	11	65836145	65836146	+	Splice_Site	INS	-	-	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:65836145_65836146insA	ENST00000322535.6	+	22	2666_2667	c.2617_2618insA	c.(2617-2619)caa>cAaa	p.Q873fs	SF3B2_ENST00000528302.1_Splice_Site_p.Q856fs|PACS1_ENST00000320580.4_5'Flank|RP11-1167A19.2_ENST00000529036.1_Intron	NM_006842.2	NP_006833.2	Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	873					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						CCCTATACAGCAAAAAAAACGG	0.515											OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001ogy.1																			0				breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						c.e22-1		Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.				4,4260		0,4,2128						5.6	1.0			80	1,8253		0,1,4126	no	frameshift-near-splice	SF3B2	NM_006842.2		0,5,6254	A1A1,A1R,RR		0.0121,0.0938,0.0399				5,12513				SO:0001630	splice_region_variant	10992				interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding	g.chr11:65836145_65836146insA	U41371	CCDS31612.1	11q13	2010-07-21	2002-08-29		ENSG00000087365	ENSG00000087365			10769	protein-coding gene	gene with protein product		605591	"""splicing factor 3b, subunit 2, 145kD"""			8566756	Standard	XM_005273726		Approved	SAP145, SF3b1, Cus1, SF3b145	uc001ogy.1	Q13435	OTTHUMG00000166751	ENST00000322535.6:c.2617-1->A	11.37:g.65836153_65836153dupA			OREG0021094	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1087	PACS1_uc001ogz.1_5'Flank|PACS1_uc001oha.2_5'Flank	p.Q873_splice	NM_006842	NP_006833	Q13435	SF3B2_HUMAN			22	2657	+			873					A8K485|B4DT19|Q7L4T5|Q7Z627|Q969K1|Q96CM6|Q9BWD2	Frame_Shift_Ins	INS	ENST00000322535.6	37	c.2617_splice	CCDS31612.1																																																																																				0.515	SF3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391352.2		Frame_Shift_Ins
TENM4	26011	broad.mit.edu	37	11	78380644	78380644	+	Missense_Mutation	SNP	C	C	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:78380644C>A	ENST00000278550.7	-	32	7208	c.6746G>T	c.(6745-6747)gGt>gTt	p.G2249V		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	2249					cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										TTGCACGTCACCCAGCCGAGT	0.562																																						uc001ozl.4																			0				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						c.(6745-6747)gGt>gTt		Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.							170.0	174.0	173.0					11																	78380644		2172	4267	6439	SO:0001583	missense	26011				signal transduction	integral to membrane		g.chr11:78380644C>A	AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.6746G>T	11.37:g.78380644C>A	ENSP00000278550:p.Gly2249Val					ODZ4_uc001ozk.4_Missense_Mutation_p.G474V	p.G2249V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN			31	7209	-			2249					A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	c.6746G>T	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071120	0.76301	.	.	ENSG00000149256	ENST00000278550;ENST00000530738	D;T	0.94457	-3.43;0.1	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	D	0.97489	0.9178	M	0.85373	2.75	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97476	1.0044	9	.	.	.	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	2249	Q6N022	TEN4_HUMAN	V	2249;713	ENSP00000278550:G2249V;ENSP00000431711:G713V	.	G	-	2	0	ODZ4	78058292	1.000000	0.71417	0.992000	0.48379	0.991000	0.79684	7.651000	0.83577	2.677000	0.91161	0.655000	0.94253	GGT		0.562	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
APOA4	337	broad.mit.edu	37	11	116691955	116691955	+	Silent	SNP	G	G	A	rs146365840	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:116691955G>A	ENST00000357780.3	-	3	933	c.819C>T	c.(817-819)gaC>gaT	p.D273D		NM_000482.3	NP_000473.2	P06727	APOA4_HUMAN	apolipoprotein A-IV	273	13 X 22 AA approximate tandem repeats.				cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|chylomicron assembly (GO:0034378)|chylomicron remodeling (GO:0034371)|high-density lipoprotein particle remodeling (GO:0034375)|hydrogen peroxide catabolic process (GO:0042744)|innate immune response in mucosa (GO:0002227)|leukocyte cell-cell adhesion (GO:0007159)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|multicellular organismal lipid catabolic process (GO:0044240)|negative regulation of plasma lipoprotein particle oxidation (GO:0034445)|phosphatidylcholine metabolic process (GO:0046470)|phospholipid efflux (GO:0033700)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of triglyceride catabolic process (GO:0010898)|protein-lipid complex assembly (GO:0065005)|regulation of cholesterol transport (GO:0032374)|regulation of intestinal cholesterol absorption (GO:0030300)|removal of superoxide radicals (GO:0019430)|response to lipid hydroperoxide (GO:0006982)|response to stilbenoid (GO:0035634)|retinoid metabolic process (GO:0001523)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)|very-low-density lipoprotein particle remodeling (GO:0034372)	blood microparticle (GO:0072562)|chylomicron (GO:0042627)|cytosol (GO:0005829)|early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	antioxidant activity (GO:0016209)|cholesterol transporter activity (GO:0017127)|copper ion binding (GO:0005507)|lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|phosphatidylcholine binding (GO:0031210)|phosphatidylcholine-sterol O-acyltransferase activator activity (GO:0060228)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGCCACGCACGTCCTCGGCCA	0.672													G|||	9	0.00179712	0.0008	0.0	5008	,	,		15299	0.0		0.0	False		,,,				2504	0.0082					uc001pps.1																			0				cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						c.(817-819)gaC>gaT		Homo sapiens apolipoprotein A-IV (APOA4), mRNA.		G		2,4400	4.2+/-10.8	0,2,2199	37.0	40.0	39.0		819	-2.7	0.0	11	dbSNP_134	39	1,8581	1.2+/-3.3	0,1,4290	no	coding-synonymous	APOA4	NM_000482.3		0,3,6489	AA,AG,GG		0.0117,0.0454,0.0231		273/397	116691955	3,12981	2201	4291	6492	SO:0001819	synonymous_variant	337							g.chr11:116691955G>A		CCDS31681.1	11q23.3	2013-01-24			ENSG00000110244	ENSG00000110244		"""Apolipoproteins"""	602	protein-coding gene	gene with protein product		107690					Standard	NM_000482		Approved		uc001pps.1	P06727	OTTHUMG00000046110	ENST00000357780.3:c.819C>T	11.37:g.116691955G>A							p.D273D	NM_000482	NP_000473				BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)	2	923	-	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)						A8MSL6|Q14CW8|Q6Q787	Silent	SNP	ENST00000357780.3	37	c.819C>T	CCDS31681.1																																																																																				0.672	APOA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106279.2	NM_000482	
AICDA	57379	broad.mit.edu	37	12	8757515	8757515	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:8757515T>A	ENST00000229335.6	-	4	534	c.431A>T	c.(430-432)tAt>tTt	p.Y144F	AICDA_ENST00000537228.1_Intron	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	144					B cell differentiation (GO:0030183)|cellular response to lipopolysaccharide (GO:0071222)|DNA demethylation (GO:0080111)|isotype switching (GO:0045190)|mRNA processing (GO:0006397)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|somatic diversification of immunoglobulins (GO:0016445)|somatic hypermutation of immunoglobulin genes (GO:0016446)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cytidine deaminase activity (GO:0004126)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GCAGTAAAAATAATCTTCAAA	0.428																																					GBM(62;896 1067 5527 26594 30137)	uc001qur.2																			0		p.Y144H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16						c.(430-432)tAt>tTt		Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.							42.0	40.0	40.0					12																	8757515		1791	4059	5850	SO:0001583	missense	57379				B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	g.chr12:8757515T>A	AB040430	CCDS41747.1	12p13	2014-09-17			ENSG00000111732	ENSG00000111732		"""Apolipoprotein B mRNA editing enzymes"""	13203	protein-coding gene	gene with protein product		605257					Standard	NM_020661		Approved	HIGM2, CDA2, ARP2, AID	uc001qur.2	Q9GZX7	OTTHUMG00000168676	ENST00000229335.6:c.431A>T	12.37:g.8757515T>A	ENSP00000229335:p.Tyr144Phe					AICDA_uc001qup.1_Intron|AICDA_uc001quq.1_Intron|AICDA_uc009zgd.1_Intron	p.Y144F	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN			3	510	-	Lung SC(5;0.184)		144					Q6QJ81|Q8NFC1	Missense_Mutation	SNP	ENST00000229335.6	37	c.431A>T	CCDS41747.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	1.444|1.444	-0.566734|-0.566734	0.03910|0.03910	.|.	.|.	ENSG00000111732|ENSG00000111732	ENST00000545512|ENST00000229335	.|T	.|0.62788	.|-0.0	5.44|5.44	5.44|5.44	0.79542|0.79542	.|APOBEC-like, C-terminal (1);Cytidine deaminase-like (1);	.|0.367274	.|0.31566	.|N	.|0.007423	T|T	0.28366|0.28366	0.0701|0.0701	N|N	0.02721|0.02721	-0.515|-0.515	0.80722|0.80722	D|D	1|1	.|B	.|0.06786	.|0.001	.|B	.|0.08055	.|0.003	T|T	0.34304|0.34304	-0.9834|-0.9834	5|10	.|0.02654	.|T	.|1	-14.7489|-14.7489	5.0339|5.0339	0.14424|0.14424	0.1615:0.0849:0.0:0.7537|0.1615:0.0849:0.0:0.7537	.|.	.|144	.|Q9GZX7	.|AICDA_HUMAN	F|F	143|144	.|ENSP00000229335:Y144F	.|ENSP00000229335:Y144F	I|Y	-|-	1|2	0|0	AICDA|AICDA	8648782|8648782	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.890000|0.890000	0.51754|0.51754	1.801000|1.801000	0.38843|0.38843	2.059000|2.059000	0.61396|0.61396	0.533000|0.533000	0.62120|0.62120	ATT|TAT		0.428	AICDA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400575.1	NM_020661	
TWF1	5756	broad.mit.edu	37	12	44200088	44200100	+	5'UTR	DEL	GCCAGCGGCCCCG	GCCAGCGGCCCCG	-	rs528164053	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:44200088_44200100delGCCAGCGGCCCCG	ENST00000395510.2	-	0	78_90				TWF1_ENST00000547564.1_5'Flank|TWF1_ENST00000552521.1_5'UTR|TWF1_ENST00000325127.4_Frame_Shift_Del_p.AGAAG17fs|TWF1_ENST00000548315.1_5'Flank	NM_001242397.1|NM_002822.4	NP_001229326.1|NP_002813.3	Q12792	TWF1_HUMAN	twinfilin actin-binding protein 1						barbed-end actin filament capping (GO:0051016)|negative regulation of actin filament polymerization (GO:0030837)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of actin phosphorylation (GO:0043538)|sequestering of actin monomers (GO:0042989)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|myofibril (GO:0030016)|perinuclear region of cytoplasm (GO:0048471)|ruffle membrane (GO:0032587)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		GCTGAGTGCAGCCAgcggccccggccggcggcc	0.775														13	0.00259585	0.003	0.0	5008	,	,		9774	0.0		0.001	False		,,,				2504	0.0082					uc001roa.3																			0				endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14						c.(49-63)gccggggccgctggcfs		Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila) (TWF1), transcript variant 2, mRNA.			,	5,2249		1,3,1123					,	-5.0	0.0			2	21,5051		5,11,2520	no	utr-5,utr-5	TWF1	NM_002822.4,NM_001242397.1	,	6,14,3643	A1A1,A1R,RR		0.414,0.2218,0.3549	,	,		26,7300				SO:0001623	5_prime_UTR_variant	5756					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity	g.chr12:44200088_44200100delGCCAGCGGCCCCG	U02680	CCDS31780.1, CCDS31780.2, CCDS55818.1	12q12	2013-04-25	2013-04-25	2006-11-13					9620	protein-coding gene	gene with protein product		610932	"""protein tyrosine kinase 9"", ""PTK9 protein tyrosine kinase 9"", ""twinfilin, actin-binding protein, homolog 1 (Drosophila)"""	PTK9		7507208	Standard	NM_002822		Approved	A6	uc001rob.3	Q12792		ENST00000395510.2:c.-52CGGGGCCGCTGGC>-	12.37:g.44200088_44200100delGCCAGCGGCCCCG						TWF1_uc001rnz.3_5'Flank|TWF1_uc001rob.3_5'UTR|TWF1_uc001roc.3_5'UTR	p.A17fs	NM_002822	NP_002813	Q12792	TWF1_HUMAN		GBM - Glioblastoma multiforme(48;0.0474)	0	79_91	-	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)	0			ADF-H 1.		A8K5A8|B3KXS6|B4DLX9|Q59G07|Q5U0B1|Q6FHJ1|Q6FHL6|Q6NUK9|Q86XL6|Q8TCD3	Frame_Shift_Del	DEL	ENST00000395510.2	37	c.51_63delCGGGGCCGCTGGC	CCDS31780.2																																																																																				0.775	TWF1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403956.1	NM_002822	
ZBTB39	9880	broad.mit.edu	37	12	57398062	57398062	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:57398062T>G	ENST00000300101.2	-	2	725	c.640A>C	c.(640-642)Acc>Ccc	p.T214P		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	214					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGAGCAGGGGTGTCATGGTCT	0.572																																						uc001sml.2																			0		p.D213G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						c.(640-642)Acc>Ccc		Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.							126.0	109.0	115.0					12																	57398062		2203	4300	6503	SO:0001583	missense	9880				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr12:57398062T>G	AB002350	CCDS31839.1	12q13.3	2013-01-09				ENSG00000166860		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	29014	protein-coding gene	gene with protein product						9205841	Standard	NM_014830		Approved	KIAA0352, ZNF922	uc001sml.2	O15060		ENST00000300101.2:c.640A>C	12.37:g.57398062T>G	ENSP00000300101:p.Thr214Pro					ZBTB39_uc021qzg.1_Missense_Mutation_p.T214P	p.T214P	NM_014830	NP_055645	O15060	ZBT39_HUMAN			1	793	-			214					A7MD38|Q9UD98	Missense_Mutation	SNP	ENST00000300101.2	37	c.640A>C	CCDS31839.1	.	.	.	.	.	.	.	.	.	.	T	1.266	-0.614557	0.03663	.	.	ENSG00000166860	ENST00000300101	T	0.08807	3.05	5.92	-1.77	0.07982	.	1.575640	0.03655	N	0.241607	T	0.07098	0.0180	N	0.14661	0.345	0.09310	N	1	B	0.14438	0.01	B	0.19666	0.026	T	0.45673	-0.9245	10	0.66056	D	0.02	-2.0715	11.6266	0.51149	0.0:0.3506:0.0:0.6494	.	214	O15060	ZBT39_HUMAN	P	214	ENSP00000300101:T214P	ENSP00000300101:T214P	T	-	1	0	ZBTB39	55684329	0.000000	0.05858	0.000000	0.03702	0.227000	0.25037	-0.226000	0.09139	-0.706000	0.05028	-0.290000	0.09829	ACC		0.572	ZBTB39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411214.1	NM_014830	
LRRIQ1	84125	broad.mit.edu	37	12	85450302	85450302	+	Silent	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:85450302T>C	ENST00000393217.2	+	8	1792	c.1731T>C	c.(1729-1731)gaT>gaC	p.D577D		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	577										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAATCAAAGATAATCAGCAGA	0.289																																						uc001tac.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83						c.(1729-1731)gaT>gaC		Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.							33.0	36.0	35.0					12																	85450302		2193	4269	6462	SO:0001819	synonymous_variant	84125							g.chr12:85450302T>C	AK022365	CCDS41816.1	12q21	2008-02-05			ENSG00000133640	ENSG00000133640			25708	protein-coding gene	gene with protein product						11347906	Standard	NM_001079910		Approved	FLJ12303, KIAA1801	uc001tac.3	Q96JM4	OTTHUMG00000166185	ENST00000393217.2:c.1731T>C	12.37:g.85450302T>C						LRRIQ1_uc021rbo.1_Silent_p.D455D|LRRIQ1_uc001taa.1_Silent_p.D552D	p.D577D	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN		GBM - Glioblastoma multiforme(134;0.212)	7	1842	+			577					Q567P4|Q9BS17|Q9HA36	Silent	SNP	ENST00000393217.2	37	c.1731T>C	CCDS41816.1																																																																																				0.289	LRRIQ1-004	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388249.2	NM_032165	
WSB2	55884	broad.mit.edu	37	12	118490112	118490113	+	Intron	INS	-	-	A	rs191754911	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:118490112_118490113insA	ENST00000315436.3	-	2	324				WSB2_ENST00000544233.1_Intron|WSB2_ENST00000536738.1_Intron|WSB2_ENST00000542304.1_Intron|WSB2_ENST00000441406.2_Intron|WSB2_ENST00000535496.1_Intron	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2						intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGAATACTTACAACTGCTCC	0.55																																						uc001twr.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17						c.e2+1		Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.																																				SO:0001627	intron_variant	55884				intracellular signal transduction			g.chr12:118490112_118490113insA	AF038187	CCDS9186.1, CCDS61251.1, CCDS61252.1	12q24.23	2013-01-09	2011-01-25		ENSG00000176871	ENSG00000176871		"""WD repeat domain containing"""	19222	protein-coding gene	gene with protein product			"""WD repeat and SOCS box-containing 2"""			12076535	Standard	NM_018639		Approved	SBA2, MGC10210	uc001twr.2	Q9NYS7	OTTHUMG00000168885	ENST00000315436.3:c.182+1->T	12.37:g.118490113_118490113dupA						WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_Splice_Site|WSB2_uc009zws.1_Splice_Site_p.F61_splice	p.F61_splice	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN			2	280	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		61					B4DIE6|B4DPV6|Q9NRX9	Splice_Site	INS	ENST00000315436.3	37	c.182_splice	CCDS9186.1																																																																																				0.550	WSB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401515.1	NM_018639	
ATP8A2	51761	broad.mit.edu	37	13	26411335	26411335	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:26411335T>A	ENST00000381655.2	+	29	2931	c.2789T>A	c.(2788-2790)aTc>aAc	p.I930N	ATP8A2_ENST00000255283.8_Missense_Mutation_p.I865N|ATP8A2_ENST00000491840.1_3'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	890					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCTGGGAATCTTTGAGAGG	0.502																																						uc001uqk.3																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72						c.(2788-2790)aTc>aAc		Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.							124.0	120.0	121.0					13																	26411335		1903	4123	6026	SO:0001583	missense	51761				ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr13:26411335T>A	AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2789T>A	13.37:g.26411335T>A	ENSP00000371070:p.Ile930Asn					ATP8A2_uc010tdi.2_Missense_Mutation_p.I865N|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.I480N	p.I930N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)	28	2931	+		Breast(139;0.0201)|Lung SC(185;0.0225)	890					Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	ENST00000381655.2	37	c.2789T>A	CCDS41873.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.643385	0.87859	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.46063	0.88;0.88	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.74959	0.3785	H	0.95260	3.645	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.995	D;D;P	0.72075	0.947;0.976;0.905	T	0.83314	-0.0021	10	0.87932	D	0	.	16.2009	0.82078	0.0:0.0:0.0:1.0	.	865;710;890	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	N	930;865;710	ENSP00000371070:I930N;ENSP00000255283:I865N	ENSP00000255283:I865N	I	+	2	0	ATP8A2	25309335	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	8.040000	0.89188	2.235000	0.73313	0.533000	0.62120	ATC		0.502	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044236.2	NM_016529	
WASF3	10810	broad.mit.edu	37	13	27256966	27256967	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:27256966_27256967insC	ENST00000335327.5	+	9	1384_1385	c.1206_1207insC	c.(1207-1209)cccfs	p.P403fs	WASF3_ENST00000361042.4_Frame_Shift_Ins_p.P400fs	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	403	Poly-Pro.				actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCCCACCACCTCCCCCGCCAGG	0.708																																						uc001uqv.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(1204-1209)cctcccfs		Homo sapiens WAS protein family, member 3 (WASF3), mRNA.																																				SO:0001589	frameshift_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27256966_27256967insC	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1211dupC	13.37:g.27256971_27256971dupC	ENSP00000335055:p.Pro403fs					WASF3_uc001uqw.3_Frame_Shift_Ins_p.P399fs	p.P402fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	1431_1432	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	402			Poly-Pro.		O94974|Q86VQ2	Frame_Shift_Ins	INS	ENST00000335327.5	37	c.1206_1207insC	CCDS9318.1																																																																																				0.708	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		
FLT1	2321	broad.mit.edu	37	13	28880897	28880897	+	Missense_Mutation	SNP	C	C	T	rs372046832		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:28880897C>T	ENST00000282397.4	-	29	3984	c.3733G>A	c.(3733-3735)Gac>Aac	p.D1245N	FLT1_ENST00000540678.1_Missense_Mutation_p.D463N|FLT1_ENST00000543394.1_Missense_Mutation_p.D268N	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1245					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTGCTGCTGTCGCCCTGGTAG	0.552																																						uc001usb.3																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(3733-3735)Gac>Aac		Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	Sunitinib(DB01268)	C	ASN/ASP	0,4406		0,0,2203	85.0	77.0	80.0		3733	3.5	0.0	13		80	1,8599	1.2+/-3.3	0,1,4299	no	missense	FLT1	NM_002019.4	23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	1245/1339	28880897	1,13005	2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28880897C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3733G>A	13.37:g.28880897C>T	ENSP00000282397:p.Asp1245Asn					FLT1_uc010aap.2_Missense_Mutation_p.D250N|FLT1_uc010aaq.2_Missense_Mutation_p.D370N|FLT1_uc001usa.3_Missense_Mutation_p.D463N	p.D1245N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	28	4018	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	1245					A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.3733G>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289171	0.59976	0.0	1.16E-4	ENSG00000102755	ENST00000282397;ENST00000543394;ENST00000540678	T;D;T	0.82081	-1.38;-1.57;-1.48	5.23	3.47	0.39725	.	0.232475	0.42294	N	0.000731	D	0.82426	0.5034	L	0.52905	1.665	0.21290	N	0.999731	D	0.69078	0.997	P	0.51193	0.662	T	0.75096	-0.3438	10	0.87932	D	0	.	9.3249	0.37986	0.0:0.8319:0.0:0.1681	.	1245	P17948	VGFR1_HUMAN	N	1245;268;463	ENSP00000282397:D1245N;ENSP00000437841:D268N;ENSP00000443311:D463N	ENSP00000282397:D1245N	D	-	1	0	FLT1	27778897	0.640000	0.27243	0.025000	0.17156	0.062000	0.15995	3.206000	0.51098	1.326000	0.45319	0.650000	0.86243	GAC		0.552	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
FLT1	2321	broad.mit.edu	37	13	29004213	29004213	+	Silent	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:29004213C>T	ENST00000282397.4	-	8	1331	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	FLT1_ENST00000541932.1_Silent_p.K360K|FLT1_ENST00000539099.1_Silent_p.K360K	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	360	Ig-like C2-type 4.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGGGAAATGCCTTCACTTTCA	0.443																																						uc001usb.3																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115						c.(1078-1080)aaG>aaA		Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	Sunitinib(DB01268)						122.0	116.0	118.0					13																	29004213		2203	4300	6503	SO:0001819	synonymous_variant	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:29004213C>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1080G>A	13.37:g.29004213C>T						FLT1_uc010aar.1_Silent_p.K360K|FLT1_uc001usc.3_Silent_p.K360K|FLT1_uc010tdp.1_Silent_p.K360K	p.K360K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	7	1365	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	360			Ig-like C2-type 4.		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	c.1080G>A	CCDS9330.1																																																																																				0.443	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
DOCK9	23348	broad.mit.edu	37	13	99549805	99549805	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:99549805T>A	ENST00000376460.1	-	15	1726	c.1646A>T	c.(1645-1647)tAc>tTc	p.Y549F	DOCK9_ENST00000339416.2_Missense_Mutation_p.Y550F|DOCK9_ENST00000442173.1_Missense_Mutation_p.Y549F|DOCK9_ENST00000448493.2_Missense_Mutation_p.Y561F	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	550					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTCTTGCCTGTAGATGGCAGA	0.383																																						uc001vnt.2																			0				breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59						c.(1648-1650)tAc>tTc		Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.							229.0	223.0	225.0					13																	99549805		1878	4111	5989	SO:0001583	missense	23348				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	g.chr13:99549805T>A	AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.1646A>T	13.37:g.99549805T>A	ENSP00000365643:p.Tyr549Phe					DOCK9_uc001vnw.2_Missense_Mutation_p.Y549F|DOCK9_uc021rlw.1_Missense_Mutation_p.Y549F|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.Y550F|DOCK9_uc010tis.1_Missense_Mutation_p.Y549F|DOCK9_uc010tit.1_Missense_Mutation_p.Y550F|DOCK9_uc010afu.1_Missense_Mutation_p.Y365F	p.Y550F	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN			14	1704	-	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		550					B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	c.1649A>T	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.791390	0.50102	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.04015	3.73;3.73;3.73;3.73	5.25	5.25	0.73442	.	0.061993	0.64402	D	0.000002	T	0.04861	0.0131	L	0.28504	0.86	0.52501	D	0.999953	B;B;B;B;B	0.22211	0.014;0.064;0.066;0.004;0.012	B;B;B;B;B	0.29440	0.032;0.102;0.072;0.008;0.044	T	0.48019	-0.9071	9	.	.	.	.	11.0442	0.47849	0.1473:0.0:0.0:0.8527	.	550;549;549;549;550	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	F	549;550;550;550;549;550;561;549	ENSP00000365643:Y549F;ENSP00000341086:Y550F;ENSP00000401958:Y561F;ENSP00000406883:Y549F	.	Y	-	2	0	DOCK9	98347806	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.951000	0.56684	1.997000	0.58415	0.533000	0.62120	TAC		0.383	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	
COL4A2	1284	broad.mit.edu	37	13	111132630	111132630	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:111132630G>T	ENST00000360467.5	+	31	2957	c.2651G>T	c.(2650-2652)gGt>gTt	p.G884V		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	884	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCATGAAAGGTCTCTCTGGT	0.582																																						uc001vqx.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						c.(2650-2652)gGt>gTt		Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.							92.0	95.0	94.0					13																	111132630		1912	4119	6031	SO:0001583	missense	1284				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	g.chr13:111132630G>T	AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.2651G>T	13.37:g.111132630G>T	ENSP00000353654:p.Gly884Val						p.G884V	NM_001846	NP_001837	P08572	CO4A2_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)		30	2940	+	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	884			Triple-helical region.		Q14052|Q548C3|Q5VZA9|Q66K23	Missense_Mutation	SNP	ENST00000360467.5	37	c.2651G>T	CCDS41907.1	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284452	0.40394	.	.	ENSG00000134871	ENST00000360467;ENST00000257309	D	0.99353	-5.77	4.93	4.93	0.64822	.	0.108239	0.40818	N	0.001001	D	0.99661	0.9874	H	0.98507	4.25	0.80722	D	1	D	0.71674	0.998	D	0.72982	0.979	D	0.97360	0.9969	10	0.87932	D	0	.	15.0819	0.72122	0.0:0.0:1.0:0.0	.	884	P08572	CO4A2_HUMAN	V	884	ENSP00000353654:G884V	ENSP00000257309:G884V	G	+	2	0	COL4A2	109930631	1.000000	0.71417	0.741000	0.31004	0.052000	0.14988	6.323000	0.72891	2.272000	0.75746	0.462000	0.41574	GGT		0.582	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
ZFYVE26	23503	broad.mit.edu	37	14	68247033	68247033	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:68247033C>T	ENST00000347230.4	-	23	4737	c.4599G>A	c.(4597-4599)tgG>tgA	p.W1533*	ZFYVE26_ENST00000555452.1_Nonsense_Mutation_p.W1533*	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1533					cell death (GO:0008219)|cytokinesis (GO:0000910)|double-strand break repair via homologous recombination (GO:0000724)	centrosome (GO:0005813)|lysosomal membrane (GO:0005765)|midbody (GO:0030496)	metal ion binding (GO:0046872)|phosphatidylinositol-3-phosphate binding (GO:0032266)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCAGTCACACCACACTGGGG	0.502																																						uc001xka.2																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94						c.(4597-4599)tgG>tgA		Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.							88.0	68.0	75.0					14																	68247033		2203	4300	6503	SO:0001587	stop_gained	23503				cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	g.chr14:68247033C>T	AB002319	CCDS9788.1	14q23.3	2012-11-23				ENSG00000072121		"""Zinc fingers, FYVE domain containing"""	20761	protein-coding gene	gene with protein product	"""spastizin"", ""FYVE-CENT"""	612012	"""spastic paraplegia 15 (complicated, autosomal recessive)"""	SPG15		9205841, 18394578	Standard	NM_015346		Approved	KIAA0321	uc001xka.2	Q68DK2		ENST00000347230.4:c.4599G>A	14.37:g.68247033C>T	ENSP00000251119:p.Trp1533*					ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Nonsense_Mutation_p.W1533*	p.W1533*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN		all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)	22	4738	-			1533					B1B5Y3|B4E2U3|O15035|Q68DT9|Q6AW90|Q6ZR50|Q7Z3A4|Q7Z3I1|Q8N4W7	Nonsense_Mutation	SNP	ENST00000347230.4	37	c.4599G>A	CCDS9788.1	.	.	.	.	.	.	.	.	.	.	C	44	10.841020	0.99476	.	.	ENSG00000072121	ENST00000347230;ENST00000411699;ENST00000555452	.	.	.	5.37	5.37	0.77165	.	0.066848	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.8632	17.2907	0.87156	0.0:1.0:0.0:0.0	.	.	.	.	X	1533;1512;1533	.	ENSP00000251119:W1533X	W	-	3	0	ZFYVE26	67316786	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	5.101000	0.64566	2.514000	0.84764	0.561000	0.74099	TGG		0.502	ZFYVE26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412736.2	NM_015346	
CPSF2	53981	broad.mit.edu	37	14	92588104	92588104	+	5'Flank	SNP	G	G	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:92588104G>C	ENST00000298875.4	+	0	0				NDUFB1_ENST00000555441.1_5'Flank|NDUFB1_ENST00000553514.1_5'Flank|NDUFB1_ENST00000329559.3_Missense_Mutation_p.H6Q|NDUFB1_ENST00000605997.1_5'Flank|NDUFB1_ENST00000556555.1_5'Flank	NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa						gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GAGCAGAGGGGTGACGCCAGC	0.517																																					Ovarian(78;28 1788 18702 44111)	uc001yaf.3																			0				large_intestine(1)|lung(1)	2						c.(16-18)caC>caG		Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa (NDUFB1), nuclear gene encoding mitochondrial protein, mRNA.	NADH(DB00157)						53.0	58.0	56.0					14																	92588104		2203	4299	6502	SO:0001631	upstream_gene_variant	4707				mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	g.chr14:92588104G>C	AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0			14.37:g.92588104G>C	Exception_encountered					NDUFB1_uc001yag.1_Non-coding_Transcript|CPSF2_uc001yah.2_5'Flank	p.H6Q	NM_004545	NP_004536	O75438	NDUB1_HUMAN		COAD - Colon adenocarcinoma(157;0.205)	0	50	-		all_cancers(154;0.0766)	14					B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	ENST00000298875.4	37	c.18C>G	CCDS9902.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.386149	0.82902	.	.	ENSG00000183648	ENST00000329559	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	T	0.64382	0.2593	.	.	.	0.80722	D	1	D	0.54207	0.965	P	0.51229	0.663	T	0.70107	-0.4963	7	0.87932	D	0	.	12.627	0.56636	0.0:0.0:1.0:0.0	.	6	O75438-2	.	Q	6	.	ENSP00000330787:H6Q	H	-	3	2	NDUFB1	91657857	0.975000	0.34042	0.845000	0.33349	0.228000	0.25075	1.799000	0.38824	2.086000	0.62901	0.555000	0.69702	CAC		0.517	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412123.1		
SERPINA1	5265	broad.mit.edu	37	14	94849084	94849084	+	Nonsense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:94849084G>T	ENST00000448921.1	-	4	1063	c.491C>A	c.(490-492)tCa>tAa	p.S164*	SERPINA1_ENST00000355814.4_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000449399.3_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000404814.4_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000393088.4_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000402629.1_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000440909.1_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000393087.4_Nonsense_Mutation_p.S164*|SERPINA1_ENST00000555289.1_5'Flank|SERPINA1_ENST00000437397.1_Nonsense_Mutation_p.S164*	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	164					acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of proteolysis (GO:0030162)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)	glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		GAAGGCTTCTGAGTGGTACAA	0.502																																						uc001ycy.4																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24						c.(490-492)tCa>tAa		Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	Alpha-1-proteinase inhibitor(DB00058)						113.0	114.0	114.0					14																	94849084		2203	4300	6503	SO:0001587	stop_gained	5265				acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity	g.chr14:94849084G>T	X01683	CCDS9925.1	14q32.1	2014-02-18	2005-08-18		ENSG00000197249	ENSG00000197249		"""Serine (or cysteine) peptidase inhibitors"""	8941	protein-coding gene	gene with protein product	"""protease inhibitor 1 (anti-elastase), alpha-1-antitrypsin"""	107400	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1"""	PI		24172014	Standard	NM_000295		Approved	AAT, A1A, PI1, alpha-1-antitrypsin, A1AT, alpha1AT	uc010aux.3	P01009	OTTHUMG00000150355	ENST00000448921.1:c.491C>A	14.37:g.94849084G>T	ENSP00000416066:p.Ser164*					SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auy.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ycz.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auz.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010ava.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ydb.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010avb.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ydc.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auw.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010aux.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001yda.1_Nonsense_Mutation_p.S164*	p.S164*	NM_001002236	NP_001121179	P01009	A1AT_HUMAN		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	3	1045	-		all_cancers(154;0.0649)|all_epithelial(191;0.223)	164					A6PX14|B2RDQ8|Q0PVP5|Q13672|Q53XB8|Q5U0M1|Q7M4R2|Q86U18|Q86U19|Q96BF9|Q96ES1|Q9P1P0|Q9UCE6|Q9UCM3	Nonsense_Mutation	SNP	ENST00000448921.1	37	c.491C>A	CCDS9925.1	.	.	.	.	.	.	.	.	.	.	G	38	7.056268	0.98032	.	.	ENSG00000197249	ENST00000440909;ENST00000448921;ENST00000437397;ENST00000355814;ENST00000393087;ENST00000393088;ENST00000404814;ENST00000449399;ENST00000402629;ENST00000554720	.	.	.	5.94	5.94	0.96194	.	0.679175	0.13516	N	0.382102	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.2697	0.87097	0.0:0.1252:0.8748:0.0	.	.	.	.	X	164;164;164;164;164;164;164;164;164;78	.	ENSP00000348068:S164X	S	-	2	0	SERPINA1	93918837	0.048000	0.20356	0.044000	0.18714	0.355000	0.29361	2.308000	0.43690	2.826000	0.97356	0.561000	0.74099	TCA		0.502	SERPINA1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317768.2	NM_001002235	
LCMT2	9836	broad.mit.edu	37	15	43622424	43622425	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:43622424_43622425delGA	ENST00000305641.5	-	1	378_379	c.263_264delTC	c.(262-264)ctcfs	p.L88fs	ADAL_ENST00000422466.2_5'Flank|LCMT2_ENST00000567039.1_Intron|ADAL_ENST00000428046.3_5'Flank|LCMT2_ENST00000544735.1_Intron|ADAL_ENST00000389651.4_5'Flank	NM_014793.4	NP_055608.2	O60294	TYW4_HUMAN	leucine carboxyl methyltransferase 2	88					tRNA processing (GO:0008033)		methyltransferase activity (GO:0008168)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AGCCAGCGCCGAGAGACAAGAT	0.668																																						uc001zrg.3																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20						c.(262-264)ctcfs		Homo sapiens leucine carboxyl methyltransferase 2 (LCMT2), mRNA.	L-Leucine(DB00149)																																			SO:0001589	frameshift_variant	9836				tRNA processing		methyltransferase activity|protein binding	g.chr15:43622424_43622425delGA	AF265443	CCDS10094.1	15q15.3	2007-01-26			ENSG00000168806	ENSG00000168806			17558	protein-coding gene	gene with protein product	"""tRNA-yW synthesizing protein 4"""	611246				9628581, 17150819	Standard	NM_014793		Approved	KIAA0547, MGC9534, TYW4, PPM2	uc001zrg.3	O60294	OTTHUMG00000130705	ENST00000305641.5:c.263_264delTC	15.37:g.43622428_43622429delGA	ENSP00000307214:p.Leu88fs					ADAL_uc001zrh.3_5'Flank|ADAL_uc010udo.2_5'Flank	p.L88fs	NM_014793	NP_055608	O60294	LCMT2_HUMAN		GBM - Glioblastoma multiforme(94;8.1e-07)	0	396_397	-		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	88					Q4JFT6|Q96B55|Q9NR10	Frame_Shift_Del	DEL	ENST00000305641.5	37	c.263_264delTC	CCDS10094.1																																																																																				0.668	LCMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253205.1	NM_014793	
UNC13C	440279	broad.mit.edu	37	15	54624283	54624283	+	Missense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:54624283T>A	ENST00000260323.11	+	14	4468	c.4468T>A	c.(4468-4470)Ttg>Atg	p.L1490M	UNC13C_ENST00000545554.1_Missense_Mutation_p.L1490M|UNC13C_ENST00000537900.1_Missense_Mutation_p.L1488M	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1490					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACATAACTCTTTGAGGATTGA	0.328																																						uc021smr.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(4462-4464)Ttg>Atg		Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.							100.0	88.0	92.0					15																	54624283		1799	4063	5862	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54624283T>A	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.4468T>A	15.37:g.54624283T>A	ENSP00000260323:p.Leu1490Met					UNC13C_uc021sms.1_Missense_Mutation_p.L1490M|UNC13C_uc002acl.3_Missense_Mutation_p.L320M	p.L1488M	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	12	4462	+			1490					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.4462T>A	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	T	16.81	3.224803	0.58668	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	D;D;D	0.84660	-1.87;-1.88;-1.87	5.6	-0.598	0.11649	.	0.158522	0.42548	D	0.000689	D	0.90998	0.7169	M	0.82923	2.615	0.43394	D	0.995514	D;D	0.76494	0.999;0.999	D;D	0.85130	0.993;0.997	D	0.89512	0.3772	10	0.72032	D	0.01	.	11.6182	0.51102	0.0:0.4168:0.0:0.5832	.	1490;1490	F5H090;Q8NB66	.;UN13C_HUMAN	M	1490;1490;1488	ENSP00000260323:L1490M;ENSP00000438156:L1490M;ENSP00000442569:L1488M	ENSP00000260323:L1490M	L	+	1	2	UNC13C	52411575	0.428000	0.25522	0.947000	0.38551	0.898000	0.52572	0.963000	0.29293	-0.305000	0.08831	-1.139000	0.01908	TTG		0.328	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166	
MCTP2	55784	broad.mit.edu	37	15	94899492	94899492	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:94899492G>T	ENST00000357742.4	+	8	1132	c.1132G>T	c.(1132-1134)Gtc>Ttc	p.V378F	MCTP2_ENST00000451018.3_Missense_Mutation_p.V378F|MCTP2_ENST00000557742.1_5'UTR|MCTP2_ENST00000543482.1_Missense_Mutation_p.V378F|MCTP2_ENST00000331706.4_5'UTR	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	378	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGAGATGTTTGTCCAGTTAAA	0.348																																						uc002btj.3																			0				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49						c.(1132-1134)Gtc>Ttc		Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.							86.0	90.0	89.0					15																	94899492		2197	4298	6495	SO:0001583	missense	55784				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding	g.chr15:94899492G>T	AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1132G>T	15.37:g.94899492G>T	ENSP00000350377:p.Val378Phe					MCTP2_uc010urg.1_Missense_Mutation_p.V378F|MCTP2_uc002bti.2_Missense_Mutation_p.V378F|MCTP2_uc010boj.3_Missense_Mutation_p.V107F|MCTP2_uc010bok.3_Missense_Mutation_p.V378F|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	p.V378F	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)		7	1197	+	Lung NSC(78;0.0821)|all_lung(78;0.148)		378			C2 2.		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	ENST00000357742.4	37	c.1132G>T	CCDS32338.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409337	0.83340	.	.	ENSG00000140563	ENST00000543482;ENST00000451018;ENST00000357742	T;T;T	0.76709	-1.04;2.07;2.07	5.78	5.78	0.91487	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.061506	0.64402	D	0.000005	D	0.87346	0.6154	M	0.81179	2.53	0.80722	D	1	D;P;D;D	0.69078	0.997;0.917;0.992;0.995	D;P;D;P	0.67382	0.951;0.887;0.943;0.894	D	0.87633	0.2517	10	0.52906	T	0.07	.	14.2073	0.65741	0.073:0.0:0.927:0.0	.	378;378;378;378	F5H415;Q6DN12-2;Q6DN12;B7Z6H2	.;.;MCTP2_HUMAN;.	F	378	ENSP00000438521:V378F;ENSP00000395109:V378F;ENSP00000350377:V378F	ENSP00000350377:V378F	V	+	1	0	MCTP2	92700496	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.629000	0.61290	2.729000	0.93468	0.650000	0.86243	GTC		0.348	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415060.3	NM_018349	
CLEC16A	23274	broad.mit.edu	37	16	11118694	11118694	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:11118694G>C	ENST00000409790.1	+	13	1683	c.1453G>C	c.(1453-1455)Gtg>Ctg	p.V485L	CLEC16A_ENST00000465491.1_3'UTR|CLEC16A_ENST00000409552.3_Missense_Mutation_p.V467L	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCTGGATATGGTGTACCACGC	0.547																																						uc021tcy.1																			1	Whole gene deletion(1)	p.0?(1)	haematopoietic_and_lymphoid_tissue(1)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1453-1455)Gtg>Ctg		Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.							78.0	81.0	80.0					16																	11118694		2092	4229	6321	SO:0001583	missense	23274							g.chr16:11118694G>C	AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.1453G>C	16.37:g.11118694G>C	ENSP00000387122:p.Val485Leu					CLEC16A_uc002dan.4_Missense_Mutation_p.V467L|CLEC16A_uc002dao.3_Missense_Mutation_p.V483L	p.V485L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN			12	1683	+			485						Missense_Mutation	SNP	ENST00000409790.1	37	c.1453G>C	CCDS45409.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.062756	0.55432	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.50548	0.74	5.33	5.33	0.75918	.	0.054903	0.64402	D	0.000001	T	0.33265	0.0857	L	0.28458	0.855	0.80722	D	1	B;B	0.15141	0.012;0.006	B;B	0.16722	0.015;0.016	T	0.12451	-1.0547	10	0.05620	T	0.96	-24.4193	14.9033	0.70696	0.0:0.0:1.0:0.0	.	485;467	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	L	485;485;467	ENSP00000387122:V485L	ENSP00000386495:V467L	V	+	1	0	CLEC16A	11026195	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.540000	0.73861	2.652000	0.90054	0.655000	0.94253	GTG		0.547	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328540.2	NM_015226	
NPIPA1	9284	broad.mit.edu	37	16	15023280	15023280	+	3'UTR	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:15023280T>C	ENST00000472413.1	+	0	2059							Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1						mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											CGCTGGCGGGTGAGGAGATCG	0.701																																						uc010uzk.2																			0											c.e6+2		SubName: Full=cDNA FLJ57488, highly similar to Polycystin-1;																																				SO:0001624	3_prime_UTR_variant	0							g.chr16:15023280T>C	AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000472413.1:c.*2056T>C	16.37:g.15023280T>C						NPIP_uc002dcx.4_Splice_Site	p.G283_splice							6	1123	+								O15102	Splice_Site	SNP	ENST00000472413.1	37	c.847_splice																																																																																					0.701	NPIPA1-002	KNOWN	basic|readthrough_transcript	processed_transcript	protein_coding	OTTHUMT00000207327.1	NM_006985	
CHST4	10164	broad.mit.edu	37	16	71570968	71570968	+	Missense_Mutation	SNP	C	C	T	rs368228807		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:71570968C>T	ENST00000338482.5	+	3	731	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Missense_Mutation_p.R130W|CHST4_ENST00000539698.3_Missense_Mutation_p.R130W|RP11-510M2.5_ENST00000568523.1_RNA			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	130					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GGAGAACAGCCGGGCCCTGTG	0.572																																						uc021tkt.1																			0				cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						c.(388-390)Cgg>Tgg		Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.		C	TRP/ARG,TRP/ARG	0,4396		0,0,2198	54.0	60.0	58.0		388,388	4.8	1.0	16		58	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CHST4	NM_001166395.1,NM_005769.2	101,101	0,1,6497	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	130/387,130/387	71570968	1,12995	2198	4300	6498	SO:0001583	missense	10164				cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:71570968C>T	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.388C>T	16.37:g.71570968C>T	ENSP00000341206:p.Arg130Trp					CHST4_uc002fan.3_Missense_Mutation_p.R130W|CHST4_uc002fao.3_Missense_Mutation_p.R130W	p.R130W	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN			0	388	+			130					Q8IV46|Q9Y5R3	Missense_Mutation	SNP	ENST00000338482.5	37	c.388C>T	CCDS10902.1	.	.	.	.	.	.	.	.	.	.	C	17.56	3.421123	0.62622	0.0	1.16E-4	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.96830	-4.14;-4.14	5.8	4.77	0.60923	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	D	0.98280	0.9430	M	0.90870	3.155	0.41774	D	0.989786	D	0.89917	1.0	D	0.91635	0.999	D	0.98708	1.0703	10	0.87932	D	0	2.6049	12.8719	0.57970	0.2323:0.7677:0.0:0.0	.	130	Q8NCG5	CHST4_HUMAN	W	130	ENSP00000341206:R130W;ENSP00000441204:R130W	ENSP00000341206:R130W	R	+	1	2	CHST4	70128469	0.987000	0.35691	1.000000	0.80357	0.710000	0.40934	0.315000	0.19451	2.735000	0.93741	0.655000	0.94253	CGG		0.572	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268992.4	NM_005769	
ZCCHC14	23174	broad.mit.edu	37	16	87448975	87448975	+	Splice_Site	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:87448975T>G	ENST00000268616.4	-	9	1190		c.e9-2			NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14								nucleic acid binding (GO:0003676)|phosphatidylinositol binding (GO:0035091)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCTCAAAAACTTTCACAGAAA	0.398																																						uc002fjz.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36						c.e9-1		Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.							83.0	83.0	83.0					16																	87448975		2198	4300	6498	SO:0001630	splice_region_variant	23174				cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding	g.chr16:87448975T>G	AB011151	CCDS10961.1	16q24.2	2013-01-10			ENSG00000140948	ENSG00000140948		"""Zinc fingers, CCHC domain containing"", ""Sterile alpha motif (SAM) domain containing"""	24134	protein-coding gene	gene with protein product						9628581	Standard	XM_005255858		Approved	BDG29, MGC14139	uc002fjz.1	Q8WYQ9	OTTHUMG00000137655	ENST00000268616.4:c.973-2A>C	16.37:g.87448975T>G						ZCCHC14_uc002fka.1_Splice_Site|ZCCHC14_uc002fkb.3_Splice_Site_p.F101_splice	p.F325_splice	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0285)	9	1000	-			325					D3DUN1|O60324|Q3MJD8|Q9UFP0	Splice_Site	SNP	ENST00000268616.4	37	c.973_splice	CCDS10961.1	.	.	.	.	.	.	.	.	.	.	T	15.33	2.800664	0.50315	.	.	ENSG00000140948	ENST00000268616	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1484	0.81586	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZCCHC14	86006476	1.000000	0.71417	0.965000	0.40720	0.444000	0.32077	6.794000	0.75135	2.226000	0.72624	0.459000	0.35465	.		0.398	ZCCHC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269107.1	NM_015144	Intron
ALOX15	246	broad.mit.edu	37	17	4542381	4542381	+	Silent	SNP	C	C	G	rs146477215		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr17:4542381C>G	ENST00000570836.1	-	4	480	c.384G>C	c.(382-384)cgG>cgC	p.R128R	ALOX15_ENST00000574640.1_Silent_p.R89R|ALOX15_ENST00000545513.1_Silent_p.R150R|ALOX15_ENST00000293761.3_Silent_p.R128R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	128	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.R128R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		GCTCTTCTTCCCGGTGTTTCT	0.577																																						uc002fyh.3																			1	Substitution - coding silent(1)	p.R128R(2)	skin(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20						c.(382-384)cgG>cgC		Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)						151.0	134.0	139.0					17																	4542381		2203	4300	6503	SO:0001819	synonymous_variant	246				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	g.chr17:4542381C>G	M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.384G>C	17.37:g.4542381C>G						ALOX15_uc010vsd.2_Silent_p.R89R|ALOX15_uc010vse.2_Silent_p.R150R	p.R128R	NM_001140	NP_001131	P16050	LOX15_HUMAN		READ - Rectum adenocarcinoma(115;0.0327)	2	409	-			128			Lipoxygenase.		A8K2P4|B7ZA11|Q8N6R7|Q99657	Silent	SNP	ENST00000570836.1	37	c.384G>C	CCDS11049.1																																																																																				0.577	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207487.2		
ARRB2	409	broad.mit.edu	37	17	4619828	4619828	+	Silent	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr17:4619828A>C	ENST00000269260.2	+	5	515	c.282A>C	c.(280-282)ccA>ccC	p.P94P	ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000412477.3_Silent_p.P94P|ARRB2_ENST00000575877.1_Silent_p.P94P|ARRB2_ENST00000346341.2_Silent_p.P79P|ARRB2_ENST00000381488.6_Silent_p.P79P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	94					adult walking behavior (GO:0007628)|apoptotic DNA fragmentation (GO:0006309)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell chemotaxis (GO:0060326)|desensitization of G-protein coupled receptor protein signaling pathway by arrestin (GO:0002032)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor internalization (GO:0002031)|negative regulation of GTPase activity (GO:0034260)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|Notch signaling pathway (GO:0007219)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|receptor internalization (GO:0031623)|regulation of androgen receptor signaling pathway (GO:0060765)|transcription from RNA polymerase II promoter (GO:0006366)|transforming growth factor beta receptor signaling pathway (GO:0007179)	basolateral plasma membrane (GO:0016323)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endocytic vesicle (GO:0030139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	angiotensin receptor binding (GO:0031701)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)|ubiquitin protein ligase binding (GO:0031625)			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGCCCAACCCACCCCGGCCCC	0.667																																						uc010vsg.2																			0				large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						c.(280-282)ccA>ccC		Homo sapiens arrestin, beta 2 (ARRB2), transcript variant 1, mRNA.							30.0	25.0	26.0					17																	4619828		2203	4298	6501	SO:0001819	synonymous_variant	409				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding	g.chr17:4619828A>C		CCDS11050.1, CCDS11051.1, CCDS58504.1, CCDS58505.1, CCDS59276.1	17p13	2008-12-11			ENSG00000141480	ENSG00000141480			712	protein-coding gene	gene with protein product	"""arrestin 3"""	107941		ARR2		7695743	Standard	NM_001257329		Approved	BARR2, DKFZp686L0365	uc002fyl.3	P32121	OTTHUMG00000090759	ENST00000269260.2:c.282A>C	17.37:g.4619828A>C						ARRB2_uc002fyj.3_Silent_p.P94P|ARRB2_uc002fyk.3_Silent_p.P79P|ARRB2_uc002fyl.3_Silent_p.P94P|ARRB2_uc002fym.3_Silent_p.P79P|ARRB2_uc002fyn.3_5'UTR	p.P94P	NM_004313	NP_004304	P32121	ARRB2_HUMAN			4	510	+			94					B4DLW0|B5B0C0|B7WPL3|D3DTK2|H0Y688|Q0Z8D3|Q2PP19|Q6ICT3|Q8N7Y2|Q9UEQ6	Silent	SNP	ENST00000269260.2	37	c.282A>C	CCDS11050.1																																																																																				0.667	ARRB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439552.1	NM_004313	
CD300A	11314	broad.mit.edu	37	17	72469708	72469709	+	Frame_Shift_Ins	INS	-	-	G	rs200229648	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr17:72469708_72469709insG	ENST00000360141.3	+	2	362_363	c.74_75insG	c.(73-78)gcgggcfs	p.AG25fs	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000392625.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	25	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGGACCGTGGCGGGCCCCGTGG	0.569																																						uc002jkv.3																			0		p.V24M(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						c.(73-75)gcgfs		Homo sapiens CD300a molecule (CD300A), mRNA.																																				SO:0001589	frameshift_variant	11314				cell adhesion	integral to membrane|plasma membrane	receptor activity	g.chr17:72469708_72469709insG	BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.77dupG	17.37:g.72469711_72469711dupG	ENSP00000353259:p.Ala25fs					CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	p.A25fs	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN			1	395_396	+			25			Ig-like V-type.		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Frame_Shift_Ins	INS	ENST00000360141.3	37	c.74_75insG	CCDS32720.1																																																																																				0.569	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000145091.1	NM_007261	
DAPK3	1613	broad.mit.edu	37	19	3961153	3961153	+	Silent	SNP	G	G	A	rs370261717		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:3961153G>A	ENST00000545797.2	-	7	879	c.636C>T	c.(634-636)agC>agT	p.S212S	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Silent_p.S212S			O43293	DAPK3_HUMAN	death-associated protein kinase 3	212	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGCACCGCTCAGGCTGC	0.662																																						uc002lzc.1																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21						c.(634-636)agC>agT		Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.		G		0,4402		0,0,2201	68.0	54.0	59.0		636	-2.0	0.6	19		59	3,8595	3.0+/-9.4	0,3,4296	no	coding-synonymous	DAPK3	NM_001348.1		0,3,6497	AA,AG,GG		0.0349,0.0,0.0231		212/455	3961153	3,12997	2201	4299	6500	SO:0001819	synonymous_variant	1613				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity	g.chr19:3961153G>A	AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.636C>T	19.37:g.3961153G>A						DAPK3_uc002lzb.1_5'UTR|DAPK3_uc002lzd.1_Silent_p.S212S	p.S212S	NM_001348	NP_001339	O43293	DAPK3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)	5	730	-		Hepatocellular(1079;0.137)	212			Protein kinase.		A0AVN4|B3KQE2|Q05JY4	Silent	SNP	ENST00000545797.2	37	c.636C>T	CCDS12116.1																																																																																				0.662	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457817.2	NM_001348	
TSPAN16	26526	broad.mit.edu	37	19	11411902	11411902	+	Missense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:11411902C>T	ENST00000316737.1	+	4	518	c.368C>T	c.(367-369)aCc>aTc	p.T123I	TSPAN16_ENST00000592955.1_Missense_Mutation_p.T98I|TSPAN16_ENST00000590327.1_Missense_Mutation_p.T123I|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	123						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TTGGAACACACCTTCGTGACC	0.498																																						uc002mqv.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						c.(367-369)aCc>aTc		Homo sapiens tetraspanin 16 (TSPAN16), mRNA.							159.0	131.0	140.0					19																	11411902		2203	4300	6503	SO:0001583	missense	26526					integral to membrane		g.chr19:11411902C>T	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.368C>T	19.37:g.11411902C>T	ENSP00000319486:p.Thr123Ile					TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Non-coding_Transcript	p.T123I	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN			3	518	+			123					K7EN22|K7EPD8|Q8N6J7	Missense_Mutation	SNP	ENST00000316737.1	37	c.368C>T	CCDS12256.1	.	.	.	.	.	.	.	.	.	.	C	0.008	-1.929736	0.00488	.	.	ENSG00000130167	ENST00000316737;ENST00000337994	T;T	0.80123	-1.34;-1.34	3.33	-6.67	0.01783	Tetraspanin, EC2 domain (1);	1.812420	0.03505	N	0.218734	T	0.50650	0.1628	N	0.02539	-0.55	0.09310	N	1	B	0.14012	0.009	B	0.12837	0.008	T	0.49143	-0.8970	10	0.25106	T	0.35	-1.1172	1.0228	0.01521	0.3548:0.2051:0.2927:0.1474	.	123	Q9UKR8	TSN16_HUMAN	I	123	ENSP00000319486:T123I;ENSP00000338759:T123I	ENSP00000319486:T123I	T	+	2	0	TSPAN16	11272902	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	-2.002000	0.01464	-3.430000	0.00165	-1.286000	0.01371	ACC		0.498	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466	
CYP4F12	66002	broad.mit.edu	37	19	15791069	15791069	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:15791069A>G	ENST00000550308.1	+	4	739	c.359A>G	c.(358-360)aAg>aGg	p.K120R	CYP4F12_ENST00000324632.10_Missense_Mutation_p.K120R	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	120					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	ATTGCACCCAAGGATAATCTC	0.562																																						uc002nbl.3																			0				NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						c.(358-360)aAg>aGg		Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.							142.0	145.0	144.0					19																	15791069		2190	4292	6482	SO:0001583	missense	66002							g.chr19:15791069A>G	AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.359A>G	19.37:g.15791069A>G	ENSP00000448998:p.Lys120Arg					CYP4F12_uc010xoo.2_Missense_Mutation_p.K120R|CYP4F12_uc010xop.2_Missense_Mutation_p.K120R	p.K120R	NM_023944	NP_076433					3	478	+	Acute lymphoblastic leukemia(2;0.0367)							E7ET51|O60389|Q5JPJ7|Q9HCS1	Missense_Mutation	SNP	ENST00000550308.1	37	c.359A>G	CCDS42517.1	.	.	.	.	.	.	.	.	.	.	.	14.27	2.485109	0.44147	.	.	ENSG00000186204	ENST00000550308;ENST00000324632	T;T	0.80824	-1.42;-1.42	2.36	2.36	0.29203	.	0.350716	0.23780	U	0.044622	D	0.87601	0.6218	M	0.83603	2.65	0.24533	N	0.994103	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.998	T	0.76806	-0.2823	10	0.87932	D	0	.	6.6436	0.22923	1.0:0.0:0.0:0.0	.	120;120;120	B4E2R2;B4E270;Q9HCS2	.;.;CP4FC_HUMAN	R	120	ENSP00000448998:K120R;ENSP00000321821:K120R	ENSP00000321821:K120R	K	+	2	0	CYP4F12	15652069	1.000000	0.71417	0.031000	0.17742	0.006000	0.05464	2.808000	0.47963	1.329000	0.45376	0.402000	0.26972	AAG		0.562	CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		
NDUFA13	51079	broad.mit.edu	37	19	19638108	19638108	+	Silent	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:19638108C>T	ENST00000507754.4	+	3	676	c.192C>T	c.(190-192)gaC>gaT	p.D64D	NDUFA13_ENST00000512771.3_Silent_p.D64D|YJEFN3_ENST00000608404.1_Silent_p.D64D|NDUFA13_ENST00000503283.1_Silent_p.D64D|NDUFA13_ENST00000252576.5_Silent_p.D147D|CTC-260F20.3_ENST00000555938.1_Silent_p.D64D|YJEFN3_ENST00000436027.5_5'Flank|YJEFN3_ENST00000514277.4_5'Flank|CTC-260F20.3_ENST00000586674.1_3'UTR|NDUFA13_ENST00000428459.2_Silent_p.D64D			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	64					apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						AAATCGAGGACTTCGAGGCTC	0.642																																						uc002nmt.2																			0				NS(1)|breast(1)|lung(3)	5								Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							68.0	61.0	63.0					19																	19638108		2203	4300	6503	SO:0001819	synonymous_variant	51079							g.chr19:19638108C>T	AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.192C>T	19.37:g.19638108C>T						YJEFN3_uc021uqu.1_Silent_p.D64D|YJEFN3_uc021uqv.1_Silent_p.D64D|YJEFN3_uc021uqw.1_Silent_p.D64D|YJEFN3_uc010ecf.2_5'Flank|YJEFN3_uc002nmu.2_5'Flank		NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN					+								B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Silent	SNP	ENST00000507754.4	37		CCDS12404.2																																																																																				0.642	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367916.6	NM_015965	
ZNF536	9745	broad.mit.edu	37	19	30934639	30934639	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:30934639A>G	ENST00000355537.3	+	2	317	c.170A>G	c.(169-171)gAg>gGg	p.E57G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	57					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCAACCCCGAGGAGAAGCCC	0.677																																						uc002nsu.1																			0		p.P56A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(169-171)gAg>gGg		Homo sapiens zinc finger protein 536 (ZNF536), mRNA.							46.0	50.0	49.0					19																	30934639		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:30934639A>G		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.170A>G	19.37:g.30934639A>G	ENSP00000347730:p.Glu57Gly					ZNF536_uc010edd.1_Missense_Mutation_p.E57G	p.E57G	NM_014717	NP_055532	O15090	ZN536_HUMAN			1	308	+	Esophageal squamous(110;0.0834)		57					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.170A>G	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	A	17.32	3.359088	0.61403	.	.	ENSG00000198597	ENST00000355537	T	0.10099	2.91	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.22742	0.0549	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	T	0.01557	-1.1325	10	0.33141	T	0.24	-37.5234	15.6688	0.77255	1.0:0.0:0.0:0.0	.	57;57	A7E228;O15090	.;ZN536_HUMAN	G	57	ENSP00000347730:E57G	ENSP00000347730:E57G	E	+	2	0	ZNF536	35626479	1.000000	0.71417	0.996000	0.52242	0.900000	0.52787	9.254000	0.95512	2.172000	0.68678	0.379000	0.24179	GAG		0.677	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
HNRNPL	3191	broad.mit.edu	37	19	39330868	39330868	+	Silent	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:39330868T>G	ENST00000221419.5	-	8	1467	c.1101A>C	c.(1099-1101)ccA>ccC	p.P367P	AC104534.3_ENST00000594769.1_5'Flank|HNRNPL_ENST00000600873.1_Silent_p.P234P	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	367	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.P367P(1)|p.P234P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGGAGGGGGTGGGGGGTGCC	0.642																																						uc010xun.2																			2	Substitution - coding silent(2)	p.P367P(1)|p.P234P(1)	central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(223-225)cAc>cCc		Homo sapiens heterogeneous nuclear ribonucleoprotein L (HNRNPL), transcript variant 2, mRNA.							7.0	9.0	8.0					19																	39330868		1496	3077	4573	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330868T>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1101A>C	19.37:g.39330868T>G						HNRNPL_uc002ojj.1_Silent_p.P23P|HNRNPL_uc010ege.1_Silent_p.P23P|HNRNPL_uc002ojk.3_Silent_p.P23P|HNRNPL_uc002ojl.3_Silent_p.P23P|HNRNPL_uc021uuh.1_Silent_p.P367P|HNRNPL_uc021uui.1_Silent_p.P234P|HNRNPL_uc002ojo.1_5'Flank|HNRNPL_uc002ojp.1_Silent_p.P23P	p.H75P			P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		4	461	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		367			Gly-rich.		A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.224A>C	CCDS33015.1																																																																																				0.642	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1		
POU2F2	5452	broad.mit.edu	37	19	42596347	42596347	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:42596347G>C	ENST00000526816.2	-	13	1289	c.1274C>G	c.(1273-1275)gCt>gGt	p.A425G	POU2F2_ENST00000529067.1_Intron|POU2F2_ENST00000529952.1_Missense_Mutation_p.A425G|POU2F2_ENST00000560558.1_Missense_Mutation_p.A370G|POU2F2_ENST00000389341.5_Missense_Mutation_p.A409G|POU2F2_ENST00000560398.1_Missense_Mutation_p.A431G|POU2F2_ENST00000533720.1_Missense_Mutation_p.A409G|POU2F2_ENST00000342301.4_Missense_Mutation_p.A425G			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	425					cell maturation (GO:0048469)|humoral immune response (GO:0006959)|immunoglobulin secretion involved in immune response (GO:0002380)|mature B cell differentiation (GO:0002335)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)			Dolutegravir(DB08930)	ggggggcgcagccccgccccc	0.667																																						uc002osp.3																			0				kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1273-1275)gCt>gGt		Homo sapiens POU class 2 homeobox 2 (POU2F2), transcript variant 1, mRNA.							6.0	8.0	7.0					19																	42596347		2068	4086	6154	SO:0001583	missense	5452				humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr19:42596347G>C		CCDS33035.1, CCDS56094.1, CCDS56095.1, CCDS58665.1	19q13.2	2011-06-20	2007-07-13					"""Homeoboxes / POU class"""	9213	protein-coding gene	gene with protein product		164176	"""POU domain class 2, transcription factor 2"""	OTF2			Standard	NM_001207026		Approved	OCT2	uc002osp.3	P09086		ENST00000526816.2:c.1274C>G	19.37:g.42596347G>C	ENSP00000431603:p.Ala425Gly					POU2F2_uc002osn.3_Missense_Mutation_p.A409G|POU2F2_uc002osq.3_Intron|POU2F2_uc002osr.2_Missense_Mutation_p.A425G	p.A425G	NM_001207025	NP_001193954	P09086	PO2F2_HUMAN			12	1336	-		Prostate(69;0.059)	425					Q16648|Q7M4M8|Q9BRS4	Missense_Mutation	SNP	ENST00000526816.2	37	c.1274C>G	CCDS56095.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.546794	0.45383	.	.	ENSG00000028277	ENST00000389341;ENST00000342301;ENST00000292077;ENST00000533720;ENST00000526816;ENST00000529952	D;D;D;D	0.83075	-1.6;-1.68;-1.68;-1.61	3.0	1.94	0.25998	.	2.644520	0.01243	N	0.008663	T	0.65964	0.2742	N	0.14661	0.345	0.26749	N	0.970244	B;P	0.41597	0.059;0.756	B;B	0.30251	0.043;0.113	T	0.62153	-0.6914	10	0.22706	T	0.39	.	6.1316	0.20209	0.1484:0.0:0.8516:0.0	.	425;409	P09086;P09086-3	PO2F2_HUMAN;.	G	409;425;425;409;424;425	ENSP00000373992:A409G;ENSP00000339369:A425G;ENSP00000437221:A409G;ENSP00000436988:A425G	ENSP00000292077:A425G	A	-	2	0	POU2F2	47288187	0.946000	0.32159	0.960000	0.40013	0.950000	0.60333	1.647000	0.37260	0.612000	0.30071	0.462000	0.41574	GCT		0.667	POU2F2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387329.3		
GPR4	2828	broad.mit.edu	37	19	46094672	46094672	+	Silent	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:46094672C>T	ENST00000323040.4	-	2	1397	c.453G>A	c.(451-453)gcG>gcA	p.A151A	OPA3_ENST00000544371.1_Intron|GPR4_ENST00000591614.1_5'Flank	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	151					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGAACAGGGGCGCCGAGTTGG	0.657																																					Esophageal Squamous(117;181 1612 1673 14956 42937)	uc002pcm.3																			0		p.A151S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(451-453)gcG>gcA		Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.							47.0	51.0	49.0					19																	46094672		2203	4299	6502	SO:0001819	synonymous_variant	2828					integral to plasma membrane	G-protein coupled receptor activity	g.chr19:46094672C>T	BC067536	CCDS12669.1	19q13.3	2012-08-21				ENSG00000177464		"""GPCR / Class A : Orphans"""	4497	protein-coding gene	gene with protein product		600551				8595909	Standard	NM_005282		Approved		uc002pcm.3	P46093		ENST00000323040.4:c.453G>A	19.37:g.46094672C>T						OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.A151A	p.A151A	NM_005282	NP_005273	P46093	GPR4_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)	1	1398	-			151					A8K3T3|B0M0K1|Q6NWM4	Silent	SNP	ENST00000323040.4	37	c.453G>A	CCDS12669.1																																																																																				0.657	GPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459603.1	NM_005282	
MYPOP	339344	broad.mit.edu	37	19	46393971	46393971	+	Silent	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:46393971T>G	ENST00000322217.5	-	3	1196	c.1110A>C	c.(1108-1110)ccA>ccC	p.P370P		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	370	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)	p.A371fs*>30(1)		large_intestine(2)|lung(1)|skin(1)	4						GGAGCGGGGCTGGGGGGGGCC	0.657																																						uc002pdt.3																			1	Insertion - Frameshift(1)	p.A371fs*>30(1)	large_intestine(1)	large_intestine(2)|lung(1)|skin(1)	4						c.(1108-1110)ccA>ccC		Homo sapiens Myb-related transcription factor, partner of profilin (MYPOP), mRNA.							6.0	8.0	8.0					19																	46393971		2078	4151	6229	SO:0001819	synonymous_variant	339344					nucleus	DNA binding	g.chr19:46393971T>G	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.1110A>C	19.37:g.46393971T>G							p.P370P	NM_001012643	NP_001012661	Q86VE0	MYPOP_HUMAN			2	1197	-			370			Pro-rich.			Silent	SNP	ENST00000322217.5	37	c.1110A>C	CCDS33055.1																																																																																				0.657	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643	
ZNF814	730051	broad.mit.edu	37	19	58385050	58385050	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:58385050G>A	ENST00000435989.2	-	3	1942	c.1708C>T	c.(1708-1710)Cac>Tac	p.H570Y	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	570					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCTAGGGTGAACTCGCTGA	0.468																																						uc002qqo.2																			0				NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						c.(1708-1710)Cac>Tac		Homo sapiens zinc finger protein 814 (ZNF814), mRNA.							99.0	81.0	86.0					19																	58385050		692	1591	2283	SO:0001583	missense	730051				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:58385050G>A		CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1708C>T	19.37:g.58385050G>A	ENSP00000410545:p.His570Tyr					ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	p.H570Y	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN			2	1980	-			570					A6NF35	Missense_Mutation	SNP	ENST00000435989.2	37	c.1708C>T	CCDS46212.1	.	.	.	.	.	.	.	.	.	.	.	11.78	1.741734	0.30865	.	.	ENSG00000204514	ENST00000435989	T	0.28895	1.59	1.67	1.67	0.24075	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40932	0.1137	H	0.95712	3.71	0.25009	N	0.991418	B	0.30584	0.286	B	0.20955	0.032	T	0.48927	-0.8991	9	0.72032	D	0.01	.	5.9789	0.19395	0.1797:0.0:0.8203:0.0	.	570	B7Z6K7	ZN814_HUMAN	Y	570	ENSP00000410545:H570Y	ENSP00000410545:H570Y	H	-	1	0	ZNF814	63076862	1.000000	0.71417	0.044000	0.18714	0.095000	0.18619	5.485000	0.66850	0.947000	0.37659	0.306000	0.20318	CAC		0.468	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466976.1	XM_001725708	
DCTN1	1639	broad.mit.edu	37	2	74592698	74592698	+	Silent	SNP	G	G	A	rs140969689		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:74592698G>A	ENST00000361874.3	-	25	3290	c.2973C>T	c.(2971-2973)atC>atT	p.I991I	DCTN1_ENST00000409868.1_Silent_p.I974I|DCTN1_ENST00000409567.3_Silent_p.I971I|DCTN1_ENST00000495643.1_5'Flank|DCTN1_ENST00000394003.3_Silent_p.I984I|DCTN1_ENST00000409240.1_Silent_p.I954I|DCTN1_ENST00000407639.2_Silent_p.I857I|RP11-287D1.3_ENST00000451608.2_5'Flank|DCTN1_ENST00000409438.1_Silent_p.I857I	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	991					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|G2/M transition of mitotic cell cycle (GO:0000086)|melanosome transport (GO:0032402)|microtubule-based transport (GO:0010970)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nervous system development (GO:0007399)	cell leading edge (GO:0031252)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dynactin complex (GO:0005869)|dynein complex (GO:0030286)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	motor activity (GO:0003774)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GGACTTTCTCGATGCGCTCAT	0.577													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20796	0.0		0.0	False		,,,				2504	0.0					uc002skx.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						c.(2971-2973)atC>atT		Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.							103.0	97.0	99.0					2																	74592698		2203	4300	6503	SO:0001819	synonymous_variant	1639				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding	g.chr2:74592698G>A		CCDS1939.1, CCDS46341.1, CCDS46342.1, CCDS54368.1, CCDS54369.1	2p13	2014-09-17	2010-06-24		ENSG00000204843	ENSG00000204843			2711	protein-coding gene	gene with protein product	"""p150 glued homolog (Drosophila)"""	601143	"""dynactin 1 (p150, Glued (Drosophila) homolog)"""			1828535	Standard	NM_001190836		Approved		uc002skx.3	Q14203	OTTHUMG00000129963	ENST00000361874.3:c.2973C>T	2.37:g.74592698G>A						SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Silent_p.I857I|DCTN1_uc002sku.3_Silent_p.I857I|DCTN1_uc002skw.2_Silent_p.I984I|DCTN1_uc010ffd.3_Silent_p.I971I|DCTN1_uc002sky.3_Silent_p.I954I	p.I991I	NM_004082	NP_004073	Q14203	DCTN1_HUMAN			24	3291	-			991					A8MY36|B4DM45|E9PFS5|E9PGE1|G5E9H4|O95296|Q6IQ37|Q9BRM9|Q9UIU1|Q9UIU2	Silent	SNP	ENST00000361874.3	37	c.2973C>T	CCDS1939.1																																																																																				0.577	DCTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252227.3	NM_004082	
PSD4	23550	broad.mit.edu	37	2	113940791	113940791	+	Missense_Mutation	SNP	C	C	T	rs201700173		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:113940791C>T	ENST00000245796.6	+	2	953	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PSD4_ENST00000441564.3_Missense_Mutation_p.A253V	NM_012455.2	NP_036587.2	Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4	253					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCTTCCTGGCGAGTCCTTGC	0.602																																						uc002tjc.3																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(757-759)gCg>gTg		Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.							95.0	94.0	95.0					2																	113940791		2203	4300	6503	SO:0001583	missense	23550				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	g.chr2:113940791C>T	U63127	CCDS33276.1	2q13	2013-01-10			ENSG00000125637	ENSG00000125637		"""Pleckstrin homology (PH) domain containing"""	19096	protein-coding gene	gene with protein product		614442				12082148	Standard	XM_005263634		Approved	TIC, EFA6B	uc002tjc.3	Q8NDX1	OTTHUMG00000153339	ENST00000245796.6:c.758C>T	2.37:g.113940791C>T	ENSP00000245796:p.Ala253Val					PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.A252V|PSD4_uc002tjf.3_5'Flank	p.A253V	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN			1	941	+			253					A6NEG7|A8K1Y0|O95621|Q4ZG34|Q6GPH8|Q8IYP4	Missense_Mutation	SNP	ENST00000245796.6	37	c.758C>T	CCDS33276.1	.	.	.	.	.	.	.	.	.	.	C	14.81	2.647658	0.47258	.	.	ENSG00000125637	ENST00000245796;ENST00000441564	T;T	0.10288	2.91;2.89	5.83	3.32	0.38043	.	0.513843	0.20444	N	0.092229	T	0.04634	0.0126	N	0.08118	0	0.80722	D	1	B;B	0.12630	0.006;0.003	B;B	0.04013	0.001;0.0	T	0.40813	-0.9543	9	.	.	.	.	6.2159	0.20656	0.7554:0.1613:0.0832:0.0	.	253;253	Q8NDX1-2;Q8NDX1	.;PSD4_HUMAN	V	253	ENSP00000245796:A253V;ENSP00000413997:A253V	.	A	+	2	0	PSD4	113657262	0.994000	0.37717	0.950000	0.38849	0.725000	0.41563	1.595000	0.36708	0.462000	0.27095	-1.139000	0.01908	GCG		0.602	PSD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330789.1	NM_012455	
SCN9A	6335	broad.mit.edu	37	2	167056293	167056293	+	Missense_Mutation	SNP	C	C	T	rs142201175		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:167056293C>T	ENST00000409435.1	-	26	4855	c.4856G>A	c.(4855-4857)cGa>cAa	p.R1619Q	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Missense_Mutation_p.R1620Q|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1608Q|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1620Q			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1619					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)	p.R1608Q(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ACGTAGGATTCGGCCAATCCT	0.483																																						uc010fpl.3																			1	Substitution - Missense(1)	p.R1608Q(2)	skin(1)	NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108						c.(4822-4824)cGa>cAa		Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	Lamotrigine(DB00555)|Lidocaine(DB00281)						139.0	142.0	141.0					2																	167056293		2203	4300	6503	SO:0001583	missense	6335					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167056293C>T	X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4856G>A	2.37:g.167056293C>T	ENSP00000386330:p.Arg1619Gln					BC051759_uc002udp.3_Non-coding_Transcript	p.R1608Q	NM_002977	NP_002968	Q15858	SCN9A_HUMAN			26	5164	-			1619					A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Missense_Mutation	SNP	ENST00000409435.1	37	c.4823G>A	CCDS46441.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732159	0.89390	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	D;D;D;D	0.99607	-6.27;-6.27;-6.27;-6.27	5.74	5.74	0.90152	.	0.086137	0.43260	D	0.000587	D	0.99849	0.9930	H	0.98980	4.39	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.96651	0.9481	10	0.87932	D	0	.	19.9095	0.97021	0.0:1.0:0.0:0.0	.	1608	E7EUN6	.	Q	1608;1620;1620;1619	ENSP00000386306:R1608Q;ENSP00000364536:R1620Q;ENSP00000304748:R1620Q;ENSP00000386330:R1619Q	ENSP00000304748:R1620Q	R	-	2	0	SCN9A	166764539	1.000000	0.71417	1.000000	0.80357	0.747000	0.42532	7.670000	0.83925	2.701000	0.92244	0.650000	0.86243	CGA		0.483	SCN9A-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333639.1	NM_002977	
FRZB	2487	broad.mit.edu	37	2	183703198	183703198	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:183703198G>A	ENST00000295113.4	-	4	1345	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	246	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTAAGTGGAGGGCAGAGGCAG	0.438																																						uc002upa.2																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21						c.(736-738)Cct>Tct		Homo sapiens frizzled-related protein (FRZB), mRNA.							120.0	114.0	116.0					2																	183703198		2203	4300	6503	SO:0001583	missense	2487				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr2:183703198G>A	U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.736C>T	2.37:g.183703198G>A	ENSP00000295113:p.Pro246Ser						p.P246S	NM_001463	NP_001454	Q92765	SFRP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)		3	954	-			246			NTR.		O00181|Q99686	Missense_Mutation	SNP	ENST00000295113.4	37	c.736C>T	CCDS2286.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.965422	0.92855	.	.	ENSG00000162998	ENST00000295113	T	0.55930	0.49	5.39	5.39	0.77823	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	0.000000	0.85682	D	0.000000	T	0.74122	0.3675	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76780	-0.2833	10	0.72032	D	0.01	.	19.1853	0.93641	0.0:0.0:1.0:0.0	.	246	Q92765	SFRP3_HUMAN	S	246	ENSP00000295113:P246S	ENSP00000295113:P246S	P	-	1	0	FRZB	183411443	1.000000	0.71417	0.965000	0.40720	0.844000	0.47949	9.785000	0.99042	2.522000	0.85027	0.557000	0.71058	CCT		0.438	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255808.1	NM_001463	
COL5A2	1290	broad.mit.edu	37	2	189927922	189927923	+	Frame_Shift_Ins	INS	-	-	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:189927922_189927923insC	ENST00000374866.3	-	27	2118_2119	c.1844_1845insG	c.(1843-1845)ggcfs	p.G615fs		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	615					axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGCCTGGAAGGCCCATGCTCCC	0.52																																						uc002uqk.3																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95						c.(1843-1845)ggcfs		Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.																																				SO:0001589	frameshift_variant	1290				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	g.chr2:189927922_189927923insC	Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.1845dupG	2.37:g.189927925_189927925dupC	ENSP00000364000:p.Gly615fs					COL5A2_uc010frx.3_Frame_Shift_Ins_p.G191fs	p.G615fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)		26	2119_2120	-			615					P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Frame_Shift_Ins	INS	ENST00000374866.3	37	c.1844_1845insG	CCDS33350.1																																																																																				0.520	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313523.1	NM_000393	
IRS1	3667	broad.mit.edu	37	2	227659846	227659846	+	Silent	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:227659846T>G	ENST00000305123.5	-	1	4629	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_ENST00000498335.1_5'UTR	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1203	Pro-rich.				cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582																																						uc021vxn.1																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69						c.(3607-3609)ccA>ccC		Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.							30.0	40.0	37.0					2																	227659846		2202	4299	6501	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227659846T>G		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3609A>C	2.37:g.227659846T>G						IRS1_uc002voh.4_Silent_p.P1203P	p.P1203P	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	0	3609	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1203			Pro-rich.			Silent	SNP	ENST00000305123.5	37	c.3609A>C	CCDS2463.1																																																																																				0.582	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
ECEL1	9427	broad.mit.edu	37	2	233346218	233346218	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:233346218G>A	ENST00000304546.1	-	14	2197	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	ECEL1_ENST00000409941.1_Missense_Mutation_p.R661W	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	663					neuropeptide signaling pathway (GO:0007218)|respiratory system process (GO:0003016)	integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTCTCACCCGCTGGTTGTAG	0.622																																						uc002vsv.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1987-1989)Cgg>Tgg		Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.							45.0	45.0	45.0					2																	233346218		2202	4300	6502	SO:0001583	missense	9427				neuropeptide signaling pathway|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity	g.chr2:233346218G>A	Y16187	CCDS2493.1	2q37.1	2010-09-29			ENSG00000171551	ENSG00000171551			3147	protein-coding gene	gene with protein product	"""damage induced neuronal endopeptidase"""	605896				9931490, 11352565	Standard	NM_004826		Approved	XCE, DINE	uc002vsv.2	O95672	OTTHUMG00000133262	ENST00000304546.1:c.1987C>T	2.37:g.233346218G>A	ENSP00000302051:p.Arg663Trp					ECEL1_uc010fya.1_Missense_Mutation_p.R661W|ECEL1_uc010fyb.1_Missense_Mutation_p.R370W	p.R663W	NM_004826	NP_004817	O95672	ECEL1_HUMAN		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000771)|Lung(119;0.00213)|LUSC - Lung squamous cell carcinoma(224;0.00746)	13	2192	-		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)	663					Q45UD9|Q53RF9|Q6UW86|Q86TH4|Q9NY95	Missense_Mutation	SNP	ENST00000304546.1	37	c.1987C>T	CCDS2493.1	.	.	.	.	.	.	.	.	.	.	G	19.92	3.915669	0.73098	.	.	ENSG00000171551	ENST00000411860;ENST00000304546;ENST00000409941	D;D;D	0.90732	-1.71;-2.72;-2.72	5.21	4.32	0.51571	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.052706	0.64402	D	0.000001	D	0.94251	0.8154	M	0.75884	2.315	0.53005	D	0.999965	D;D	0.76494	0.997;0.999	P;D	0.68353	0.766;0.957	D	0.93931	0.7214	10	0.46703	T	0.11	-33.0649	13.9204	0.63928	0.0:0.0:0.5619:0.4381	.	661;663	O95672-2;O95672	.;ECEL1_HUMAN	W	78;663;661	ENSP00000412683:R78W;ENSP00000302051:R663W;ENSP00000386333:R661W	ENSP00000302051:R663W	R	-	1	2	ECEL1	233054462	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	3.364000	0.52328	1.317000	0.45149	0.558000	0.71614	CGG		0.622	ECEL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257039.2	NM_004826	
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SNORA31_ENST00000516287.1_RNA|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527																																						uc002wlg.1																			1	Deletion - Frameshift(1)	p.I412fs*4(1)	ovary(1)	endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						c.(1231-1233)cccfs		Homo sapiens solute carrier family 23 (nucleobase transporters), member 2 (SLC23A2), transcript variant 1, mRNA.							65.0	70.0	68.0					20																	4850569		2203	4300	6503	SO:0001589	frameshift_variant	9962				L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	g.chr20:4850569delG	AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.1233delC	20.37:g.4850569delG	ENSP00000368637:p.Pro411fs					SLC23A2_uc010zqr.1_Frame_Shift_Del_p.P296fs|SLC23A2_uc002wlh.1_Frame_Shift_Del_p.P411fs|SLC23A2_uc002wli.3_Frame_Shift_Del_p.P410fs	p.P411fs	NM_005116	NP_976072	Q9UGH3	S23A2_HUMAN			11	1608	-			411					B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Frame_Shift_Del	DEL	ENST00000379333.1	37	c.1233delC	CCDS13085.1																																																																																				0.527	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1		
SRMS	6725	broad.mit.edu	37	20	62172863	62172863	+	Missense_Mutation	SNP	C	C	T	rs61740255	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr20:62172863C>T	ENST00000217188.1	-	6	1097	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	353	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				peptidyl-tyrosine autophosphorylation (GO:0038083)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ACGTTCCGGGCGGCCAAGTCC	0.706																																						uc002yfi.1																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19						c.(1057-1059)Gcc>Acc		Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.		C	THR/ALA	0,4372		0,0,2186	18.0	18.0	18.0		1057	2.0	0.5	20	dbSNP_129	18	1,8577		0,1,4288	no	missense	SRMS	NM_080823.2	58	0,1,6474	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging	353/489	62172863	1,12949	2186	4289	6475	SO:0001583	missense	6725						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr20:62172863C>T		CCDS13525.1	20q13.33	2013-02-14	2003-08-22		ENSG00000125508	ENSG00000125508		"""SH2 domain containing"""	11298	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 148"""	C20orf148		7935409	Standard	NM_080823		Approved	SRM, dJ697K14.1	uc002yfi.1	Q9H3Y6	OTTHUMG00000032977	ENST00000217188.1:c.1057G>A	20.37:g.62172863C>T	ENSP00000217188:p.Ala353Thr						p.A353T	NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)		5	1098	-	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		353			Protein kinase.			Missense_Mutation	SNP	ENST00000217188.1	37	c.1057G>A	CCDS13525.1	.	.	.	.	.	.	.	.	.	.	C	15.88	2.964193	0.53507	0.0	1.17E-4	ENSG00000125508	ENST00000217188	T	0.12361	2.69	4.03	2.01	0.26516	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000043	T	0.29288	0.0729	M	0.61703	1.905	0.46564	D	0.999106	D	0.89917	1.0	D	0.97110	1.0	T	0.00936	-1.1508	10	0.72032	D	0.01	.	8.0019	0.30301	0.1583:0.7545:0.0:0.0872	.	353	Q9H3Y6	SRMS_HUMAN	T	353	ENSP00000217188:A353T	ENSP00000217188:A353T	A	-	1	0	SRMS	61643307	1.000000	0.71417	0.453000	0.27007	0.008000	0.06430	5.718000	0.68455	0.277000	0.22141	0.462000	0.41574	GCC		0.706	SRMS-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080148.1	NM_080823	
ZNRF3	84133	broad.mit.edu	37	22	29440867	29440867	+	Nonsense_Mutation	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr22:29440867C>T	ENST00000544604.2	+	5	908	c.733C>T	c.(733-735)Cga>Tga	p.R245*	ZNRF3_ENST00000402174.1_Nonsense_Mutation_p.R145*|ZNRF3_ENST00000332811.4_Nonsense_Mutation_p.R145*|ZNRF3_ENST00000406323.3_Nonsense_Mutation_p.R145*	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	245					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCTGAAGCAGCGACGCAGTCA	0.512																																						uc003aeg.3																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(733-735)Cga>Tga		Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.							121.0	123.0	123.0					22																	29440867		2071	4192	6263	SO:0001587	stop_gained	84133					integral to membrane	zinc ion binding	g.chr22:29440867C>T	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.733C>T	22.37:g.29440867C>T	ENSP00000443824:p.Arg245*					ZNRF3_uc021wnq.1_Nonsense_Mutation_p.R145*	p.R245*	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN			4	733	+			245					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Nonsense_Mutation	SNP	ENST00000544604.2	37	c.733C>T	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	C	37	6.186568	0.97357	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	.	.	.	5.56	3.26	0.37387	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.7454	15.3395	0.74284	0.2648:0.7352:0.0:0.0	.	.	.	.	X	245;145;145;145	.	ENSP00000328614:R145X	R	+	1	2	ZNRF3	27770867	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	2.882000	0.48546	1.336000	0.45506	0.655000	0.94253	CGA		0.512	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972	
SF3A1	10291	broad.mit.edu	37	22	30736312	30736312	+	Silent	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr22:30736312A>C	ENST00000215793.8	-	9	1402	c.1248T>G	c.(1246-1248)acT>acG	p.T416T	SF3A1_ENST00000439242.1_Silent_p.T351T	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	416					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TCTTCTCCCCAGTAATGGGGG	0.557																																						uc003ahl.3																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						c.(1246-1248)acT>acG		Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.							63.0	63.0	63.0					22																	30736312		2203	4300	6503	SO:0001819	synonymous_variant	10291				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding	g.chr22:30736312A>C	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1248T>G	22.37:g.30736312A>C						SF3A1_uc021wnt.1_Silent_p.T351T	p.T416T	NM_005877	NP_005868	Q15459	SF3A1_HUMAN			8	1380	-			416					E9PAW1	Silent	SNP	ENST00000215793.8	37	c.1248T>G	CCDS13875.1																																																																																				0.557	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320916.2	NM_005877	
GCAT	23464	broad.mit.edu	37	22	38211771	38211771	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr22:38211771G>A	ENST00000248924.6	+	7	972	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	GCAT_ENST00000323205.6_Missense_Mutation_p.A332T	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	306					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	CGTTGGCTGCGCCTCCAAGGC	0.657																																						uc003aua.2																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12						c.(994-996)Gcc>Acc		Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)						108.0	113.0	111.0					22																	38211771		2203	4300	6503	SO:0001583	missense	23464				biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	g.chr22:38211771G>A	AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.916G>A	22.37:g.38211771G>A	ENSP00000248924:p.Ala306Thr					GCAT_uc003atz.3_Missense_Mutation_p.A306T	p.A332T	NM_001171690	NP_001165161	O75600	KBL_HUMAN			6	1057	+	Melanoma(58;0.045)		306					E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	ENST00000248924.6	37	c.994G>A	CCDS13957.1	.	.	.	.	.	.	.	.	.	.	G	17.67	3.445977	0.63178	.	.	ENSG00000100116	ENST00000323205;ENST00000248924	D;D	0.90788	-2.73;-2.73	4.72	3.65	0.41850	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.054303	0.64402	D	0.000001	D	0.87529	0.6200	L	0.43757	1.38	0.80722	D	1	P;P	0.40197	0.706;0.564	B;B	0.41332	0.354;0.168	D	0.88527	0.3100	10	0.52906	T	0.07	-6.3054	14.3358	0.66589	0.0:0.0:0.8515:0.1485	.	332;306	E2QC23;O75600	.;KBL_HUMAN	T	332;306	ENSP00000371110:A332T;ENSP00000248924:A306T	ENSP00000248924:A306T	A	+	1	0	GCAT	36541717	1.000000	0.71417	0.980000	0.43619	0.897000	0.52465	7.089000	0.76909	2.455000	0.83008	0.561000	0.74099	GCC		0.657	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319506.1	NM_014291.2	
OXSR1	9943	broad.mit.edu	37	3	38278405	38278405	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:38278405T>C	ENST00000446845.1	+	11	1399	c.1027T>C	c.(1027-1029)Ttt>Ctt	p.F343L	OXSR1_ENST00000311806.3_Missense_Mutation_p.F343L					oxidative stress responsive 1											skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGATGATGAATTTGATGAAGA	0.423																																						uc003chy.3																			0				skin(1)	1						c.(1027-1029)Ttt>Ctt		Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.							139.0	148.0	145.0					3																	38278405		2203	4300	6503	SO:0001583	missense	9943				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr3:38278405T>C	AB017642	CCDS2675.1	3p22.2	2013-05-17	2013-05-17	2004-11-26	ENSG00000172939	ENSG00000172939			8508	protein-coding gene	gene with protein product		604046	"""oxidative-stress responsive 1"""	OSR1		10083736	Standard	XM_005265638		Approved	KIAA1101	uc003chy.3	O95747	OTTHUMG00000131084	ENST00000446845.1:c.1027T>C	3.37:g.38278405T>C	ENSP00000415851:p.Phe343Leu					OXSR1_uc010hhb.3_Missense_Mutation_p.F277L	p.F343L	NM_005109	NP_005100	O95747	OXSR1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)	10	1369	+			343						Missense_Mutation	SNP	ENST00000446845.1	37	c.1027T>C		.	.	.	.	.	.	.	.	.	.	T	10.51	1.370898	0.24771	.	.	ENSG00000172939	ENST00000446845;ENST00000311806	T;T	0.70986	-0.53;-0.5	4.85	3.67	0.42095	.	0.160951	0.56097	N	0.000026	T	0.34774	0.0909	N	0.01168	-0.975	0.34760	D	0.732644	B	0.02656	0.0	B	0.01281	0.0	T	0.25984	-1.0116	10	0.10636	T	0.68	-4.4109	6.2171	0.20661	0.0:0.2901:0.0:0.7099	.	343	O95747	OXSR1_HUMAN	L	343	ENSP00000415851:F343L;ENSP00000311713:F343L	ENSP00000311713:F343L	F	+	1	0	OXSR1	38253409	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.073000	0.41519	0.804000	0.34136	0.454000	0.30748	TTT		0.423	OXSR1-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000342708.1	NM_005109	
PRSS50	29122	broad.mit.edu	37	3	46759087	46759087	+	Silent	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:46759087A>C	ENST00000460241.1	-	7	1817	c.147T>G	c.(145-147)acT>acG	p.T49T	PRSS50_ENST00000315170.7_Silent_p.T49T			Q9UI38	TSP50_HUMAN	protease, serine, 50	49					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CGGGATCAGCAGTGGACAGCG	0.706																																					Pancreas(41;915 1239 11561 17469)	uc003cqe.1																			0				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(145-147)acT>acG		Homo sapiens protease, serine, 50 (PRSS50), mRNA.							54.0	56.0	55.0					3																	46759087		2203	4299	6502	SO:0001819	synonymous_variant	29122				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	g.chr3:46759087A>C	AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.147T>G	3.37:g.46759087A>C						PRSS50_uc021wxe.1_Silent_p.T49T|PRSS50_uc003cqf.2_Intron	p.T49T	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN			1	629	-			49						Silent	SNP	ENST00000460241.1	37	c.147T>G	CCDS2745.1																																																																																				0.706	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1		
CNTN3	5067	broad.mit.edu	37	3	74420493	74420493	+	Missense_Mutation	SNP	C	C	T	rs367688857		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:74420493C>T	ENST00000263665.6	-	5	539	c.512G>A	c.(511-513)cGg>cAg	p.R171Q		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	171	Ig-like C2-type 2.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.R171Q(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GACAAATCTCCGACTATCTTC	0.403																																						uc003dpm.1																			1	Substitution - Missense(1)	p.R171Q(2)	central_nervous_system(1)	NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83						c.(511-513)cGg>cAg		Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	91.0	92.0		512	5.8	1.0	3		92	0,8600		0,0,4300	no	missense	CNTN3	NM_020872.1	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	171/1029	74420493	1,13005	2203	4300	6503	SO:0001583	missense	5067				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr3:74420493C>T	AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.512G>A	3.37:g.74420493C>T	ENSP00000263665:p.Arg171Gln						p.R171Q	NM_020872	NP_065923	Q9P232	CNTN3_HUMAN		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)	4	592	-		Lung NSC(201;0.138)|Lung SC(41;0.21)	171			Ig-like C2-type 2.		B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	c.512G>A	CCDS33790.1	.	.	.	.	.	.	.	.	.	.	C	36	5.782384	0.96937	2.27E-4	0.0	ENSG00000113805	ENST00000263665	D	0.81739	-1.53	5.81	5.81	0.92471	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.93064	0.7792	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.94218	0.7465	10	0.87932	D	0	.	20.0826	0.97783	0.0:1.0:0.0:0.0	.	171	Q9P232	CNTN3_HUMAN	Q	171	ENSP00000263665:R171Q	ENSP00000263665:R171Q	R	-	2	0	CNTN3	74503183	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.538000	0.82048	2.746000	0.94184	0.655000	0.94253	CGG		0.403	CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	
OR5H6	79295	broad.mit.edu	37	3	97983841	97983841	+	Missense_Mutation	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:97983841T>C	ENST00000383696.2	+	1	754	c.713T>C	c.(712-714)cTc>cCc	p.L238P	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	238						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAATTATCCTCTTTACAATC	0.353																																						uc003dsi.1																			0				cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						c.(712-714)cTc>cCc		Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.							42.0	43.0	42.0					3																	97983841		2203	4297	6500	SO:0001583	missense	79295				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:97983841T>C	BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.713T>C	3.37:g.97983841T>C	ENSP00000373196:p.Leu238Pro						p.L238P	NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN			0	713	+			238					Q6IF88	Missense_Mutation	SNP	ENST00000383696.2	37	c.713T>C	CCDS33800.1	.	.	.	.	.	.	.	.	.	.	-	12.38	1.919630	0.33908	.	.	ENSG00000230301	ENST00000383696	T	0.00249	8.44	2.19	2.19	0.27852	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38605	N	0.001629	T	0.00580	0.0019	M	0.91510	3.215	0.09310	N	0.99999	D	0.89917	1.0	D	0.79108	0.992	T	0.26360	-1.0105	10	0.87932	D	0	.	7.9658	0.30098	0.0:0.0:0.0:1.0	.	238	Q8NGV6	OR5H6_HUMAN	P	238	ENSP00000373196:L238P	ENSP00000373196:L238P	L	+	2	0	OR5H6	99466531	0.055000	0.20627	0.025000	0.17156	0.012000	0.07955	2.741000	0.47426	1.006000	0.39211	0.163000	0.16589	CTC		0.353	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359111.2		
CCDC54	84692	broad.mit.edu	37	3	107096949	107096949	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:107096949A>C	ENST00000261058.1	+	1	762	c.515A>C	c.(514-516)aAa>aCa	p.K172T		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	172										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTGCTTTACAAACTCATACAA	0.433																																						uc003dwi.1																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						c.(514-516)aAa>aCa		Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.							83.0	74.0	77.0					3																	107096949		2203	4300	6503	SO:0001583	missense	84692							g.chr3:107096949A>C	AF367469	CCDS2949.1	3q13.12	2013-10-11			ENSG00000138483	ENSG00000138483			30703	protein-coding gene	gene with protein product	"""sperm protein 17"""					15257753	Standard	NM_032600		Approved	NYD-SP17, FLJ25362, SP17	uc003dwi.1	Q8NEL0	OTTHUMG00000159169	ENST00000261058.1:c.515A>C	3.37:g.107096949A>C	ENSP00000261058:p.Lys172Thr						p.K172T	NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN			0	762	+			172					Q96A43	Missense_Mutation	SNP	ENST00000261058.1	37	c.515A>C	CCDS2949.1	.	.	.	.	.	.	.	.	.	.	a	9.268	1.044954	0.19748	.	.	ENSG00000138483	ENST00000261058	T	0.47177	0.85	5.23	1.51	0.23008	.	0.475950	0.18041	N	0.153605	T	0.51686	0.1689	M	0.62723	1.935	0.09310	N	1	D	0.61697	0.99	P	0.57152	0.814	T	0.42498	-0.9448	10	0.66056	D	0.02	-15.8926	2.9252	0.05781	0.6199:0.0:0.1967:0.1834	.	172	Q8NEL0	CCD54_HUMAN	T	172	ENSP00000261058:K172T	ENSP00000261058:K172T	K	+	2	0	CCDC54	108579639	0.002000	0.14202	0.002000	0.10522	0.023000	0.10783	1.281000	0.33214	0.299000	0.22661	0.377000	0.23210	AAA		0.433	CCDC54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353651.1	NM_032600	
ATR	545	broad.mit.edu	37	3	142234329	142234329	+	Missense_Mutation	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:142234329A>G	ENST00000350721.4	-	25	4532	c.4411T>C	c.(4411-4413)Tgg>Cgg	p.W1471R	ATR_ENST00000383101.3_Missense_Mutation_p.W1407R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	1471					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACTCCAGACCAATCGGTTGAC	0.318								Other conserved DNA damage response genes																														uc003eux.4																			0				NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						c.(4411-4413)Tgg>Cgg	Other conserved DNA damage response genes	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.							68.0	67.0	68.0					3																	142234329		2203	4300	6503	SO:0001583	missense	545				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	g.chr3:142234329A>G	U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.4411T>C	3.37:g.142234329A>G	ENSP00000343741:p.Trp1471Arg						p.W1471R	NM_001184	NP_001175	Q13535	ATR_HUMAN			24	4533	-			1471					Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	ENST00000350721.4	37	c.4411T>C	CCDS3124.1	.	.	.	.	.	.	.	.	.	.	A	12.49	1.952815	0.34471	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.20738	3.47;2.05	5.87	5.87	0.94306	Armadillo-like helical (1);	0.063176	0.64402	D	0.000002	T	0.43055	0.1230	M	0.72118	2.19	0.80722	D	1	D	0.69078	0.997	D	0.64237	0.923	T	0.18147	-1.0346	10	0.23891	T	0.37	-1.8803	16.2736	0.82632	1.0:0.0:0.0:0.0	.	1471	Q13535	ATR_HUMAN	R	1471;1407	ENSP00000343741:W1471R;ENSP00000372581:W1407R	ENSP00000343741:W1471R	W	-	1	0	ATR	143717019	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.008000	0.93601	2.247000	0.74100	0.477000	0.44152	TGG		0.318	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353995.2	NM_001184	
LEKR1	389170	broad.mit.edu	37	3	156710933	156710933	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:156710933G>A	ENST00000470811.1	+	10	1399	c.64G>A	c.(64-66)Gaa>Aaa	p.E22K	LEKR1_ENST00000356539.4_Missense_Mutation_p.E326K			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	22										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCATTACAGGAAGAGCTGAC	0.348																																						uc021xgh.1																			0				breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11						c.(976-978)Gaa>Aaa		Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.							66.0	69.0	68.0					3																	156710933		2203	4298	6501	SO:0001583	missense	389170							g.chr3:156710933G>A	AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.64G>A	3.37:g.156710933G>A	ENSP00000418214:p.Glu22Lys					LEKR1_uc003fba.1_Non-coding_Transcript	p.E326K	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)		8	1090	+			42						Missense_Mutation	SNP	ENST00000470811.1	37	c.976G>A		.	.	.	.	.	.	.	.	.	.	G	21.9	4.212607	0.79240	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.56611	0.45;0.66	4.78	4.78	0.61160	.	0.000000	0.56097	D	0.000040	T	0.69540	0.3122	M	0.70275	2.135	0.41365	D	0.987456	D	0.89917	1.0	D	0.87578	0.998	T	0.66724	-0.5851	10	0.18710	T	0.47	-11.3239	16.4038	0.83651	0.0:0.0:1.0:0.0	.	22	Q6ZMV7	LEKR1_HUMAN	K	22;326	ENSP00000418214:E22K;ENSP00000348936:E326K	ENSP00000348936:E326K	E	+	1	0	LEKR1	158193627	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	5.745000	0.68672	2.203000	0.70933	0.591000	0.81541	GAA		0.348	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	protein_coding	OTTHUMT00000351625.3	NM_001004316	
PIK3CA	5290	broad.mit.edu	37	3	178916614	178916614	+	Start_Codon_SNP	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:178916614A>G	ENST00000263967.3	+	2	158	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATCAGAACAATGCCTCCACG	0.378		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		2	Substitution - Missense(2)	p.M1V(3)	endometrium(2)	NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1-3)Atg>Gtg		Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.							45.0	45.0	45.0					3																	178916614		1872	4093	5965	SO:0001582	initiator_codon_variant	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916614A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1A>G	3.37:g.178916614A>G	ENSP00000263967:p.Met1Val	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.M1V	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		1	158	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		1					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	19.42	3.823904	0.71143	.	.	ENSG00000121879	ENST00000477735;ENST00000263967;ENST00000468036	T;T	0.73047	-0.61;-0.71	5.37	5.37	0.77165	.	0.040256	0.85682	D	0.000000	T	0.64681	0.2620	.	.	.	0.50171	D	0.99985	B	0.30193	0.272	B	0.24006	0.05	T	0.66826	-0.5825	9	0.87932	D	0	-8.6712	15.3677	0.74535	1.0:0.0:0.0:0.0	.	1	P42336	PK3CA_HUMAN	V	1	ENSP00000263967:M1V;ENSP00000417479:M1V	ENSP00000263967:M1V	M	+	1	0	PIK3CA	180399308	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.899000	0.92544	2.027000	0.59764	0.528000	0.53228	ATG		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		Missense_Mutation
CHRD	8646	broad.mit.edu	37	3	184104344	184104344	+	Missense_Mutation	SNP	T	T	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:184104344T>G	ENST00000204604.1	+	16	2243	c.1997T>G	c.(1996-1998)gTg>gGg	p.V666G	CHRD_ENST00000348986.3_Missense_Mutation_p.V626G|CHRD_ENST00000545352.1_Intron|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000450923.1_Missense_Mutation_p.V666G	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	666					BMP signaling pathway involved in spinal cord dorsal/ventral patterning (GO:0021919)|floor plate development (GO:0033504)|forebrain development (GO:0030900)|gastrulation with mouth forming second (GO:0001702)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of cell migration (GO:0030336)|negative regulation of osteoblast differentiation (GO:0045668)|osteoblast differentiation (GO:0001649)|positive regulation of cell adhesion (GO:0045785)|positive regulation of mesenchymal cell proliferation (GO:0002053)|skeletal system development (GO:0001501)	extracellular space (GO:0005615)	cytokine binding (GO:0019955)|heparin binding (GO:0008201)			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCGAGGGGGTGCGGGCGCTG	0.726																																						uc003fov.3																			0				NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						c.(1996-1998)gTg>gGg		Homo sapiens chordin (CHRD), mRNA.							3.0	4.0	3.0					3																	184104344		1677	3445	5122	SO:0001583	missense	8646				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding	g.chr3:184104344T>G	AF076612	CCDS3266.1	3q27	2008-07-18			ENSG00000090539	ENSG00000090539			1949	protein-coding gene	gene with protein product		603475				9782094, 11472837	Standard	NM_003741		Approved		uc003fov.3	Q9H2X0	OTTHUMG00000141267	ENST00000204604.1:c.1997T>G	3.37:g.184104344T>G	ENSP00000204604:p.Val666Gly					CHRD_uc003fow.3_Missense_Mutation_p.V296G|CHRD_uc003fox.3_Missense_Mutation_p.V666G|CHRD_uc003foy.3_Missense_Mutation_p.V296G|CHRD_uc010hyc.3_Missense_Mutation_p.V256G|CHRD_uc011brr.2_Intron	p.V666G	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		15	2243	+	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		666					O95254|Q2M1I8|Q6UW83|Q9H2D3|Q9H2W8|Q9H2W9|Q9P0Z2|Q9P0Z3|Q9P0Z4|Q9P0Z5	Missense_Mutation	SNP	ENST00000204604.1	37	c.1997T>G	CCDS3266.1	.	.	.	.	.	.	.	.	.	.	T	11.39	1.625293	0.28889	.	.	ENSG00000090539	ENST00000204604;ENST00000450923;ENST00000348986;ENST00000342610	T;T;T	0.14266	2.75;2.53;2.52	4.58	-6.5	0.01884	.	1.936180	0.02212	N	0.063242	T	0.10252	0.0251	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.26845	0.161;0.032;0.025	B;B;B	0.24394	0.053;0.021;0.024	T	0.15492	-1.0435	10	0.17832	T	0.49	0.1754	14.5119	0.67794	0.0:0.1738:0.0:0.8262	.	626;666;666	Q9H2X0-5;E7ESX1;Q9H2X0	.;.;CHRD_HUMAN	G	666;666;626;379	ENSP00000204604:V666G;ENSP00000408972:V666G;ENSP00000334036:V626G	ENSP00000204604:V666G	V	+	2	0	CHRD	185587038	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.285000	0.01153	-1.320000	0.02283	-0.479000	0.04858	GTG		0.726	CHRD-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280432.1	NM_003741	
TNK2	10188	broad.mit.edu	37	3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G	rs541695993	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4. {ECO:0000250}.|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728																																						uc003fvu.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29						c.(1894-1896)ccgfs		Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	Adenosine triphosphate(DB00171)																																			SO:0001589	frameshift_variant	10188				positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr3:195595228_195595229insG	L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.1896dupC	3.37:g.195595236_195595236dupG	ENSP00000329425:p.Pro632fs					TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	p.P632fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	11	2438_2439	-	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	632	Missing (in Ref. 4; AAH08884).		Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.		Q6ZMQ0|Q8N6U7|Q96H59	Frame_Shift_Ins	INS	ENST00000333602.6	37	c.1895_1896insC	CCDS33928.1																																																																																				0.728	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341437.3	NM_005781	
FGFRL1	53834	broad.mit.edu	37	4	1018839	1018839	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:1018839A>C	ENST00000398484.2	+	8	1799	c.1219A>C	c.(1219-1221)Acc>Ccc	p.T407P	FGFRL1_ENST00000504138.1_Missense_Mutation_p.T407P|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000510644.1_Missense_Mutation_p.T407P|FGFRL1_ENST00000264748.6_Missense_Mutation_p.T407P			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	407					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAAGCCGTGCACCCCCGCGCC	0.731																																						uc003gce.3																			0				endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13						c.(1219-1221)Acc>Ccc		Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.							12.0	15.0	14.0					4																	1018839		2189	4274	6463	SO:0001583	missense	53834				regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	g.chr4:1018839A>C		CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1219A>C	4.37:g.1018839A>C	ENSP00000381498:p.Thr407Pro					FGFRL1_uc003gcf.3_Missense_Mutation_p.T407P|FGFRL1_uc003gcg.3_Missense_Mutation_p.T407P|FGFRL1_uc010ibo.3_Missense_Mutation_p.T407P	p.T407P	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0158)		6	1380	+			407					B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Missense_Mutation	SNP	ENST00000398484.2	37	c.1219A>C	CCDS3344.1	.	.	.	.	.	.	.	.	.	.	A	5.280	0.237001	0.10023	.	.	ENSG00000127418	ENST00000398484;ENST00000542622;ENST00000510644;ENST00000504138;ENST00000264748	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	4.75	-1.98	0.07480	.	0.471231	0.24502	N	0.037974	T	0.34832	0.0911	N	0.01874	-0.695	0.20489	N	0.999893	B	0.02656	0.0	B	0.04013	0.001	T	0.21965	-1.0230	10	0.37606	T	0.19	-9.9813	4.6629	0.12652	0.1985:0.0:0.3108:0.4907	.	407	Q8N441	FGRL1_HUMAN	P	407;377;407;407;407	ENSP00000381498:T407P;ENSP00000425025:T407P;ENSP00000423091:T407P;ENSP00000264748:T407P	ENSP00000264748:T407P	T	+	1	0	FGFRL1	1008839	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.099000	0.15210	-0.157000	0.11059	0.533000	0.62120	ACC		0.731	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923	
DRD5	1816	broad.mit.edu	37	4	9784657	9784657	+	Missense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:9784657G>T	ENST00000304374.2	+	1	1400	c.1004G>T	c.(1003-1005)tGc>tTc	p.C335F		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	335					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	GGCTTCCCCTGCGTCAGTGAG	0.587																																						uc003gmb.4																			0				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57						c.(1003-1005)tGc>tTc		Homo sapiens dopamine receptor D5 (DRD5), mRNA.	Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)						91.0	92.0	92.0					4																	9784657		2203	4300	6503	SO:0001583	missense	1816				activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		g.chr4:9784657G>T	X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.1004G>T	4.37:g.9784657G>T	ENSP00000306129:p.Cys335Phe						p.C335F	NM_000798	NP_000789	P21918	DRD5_HUMAN			0	1400	+			335					B2R9S3|Q8NEQ8	Missense_Mutation	SNP	ENST00000304374.2	37	c.1004G>T	CCDS3405.1	.	.	.	.	.	.	.	.	.	.	g	19.99	3.928441	0.73327	.	.	ENSG00000169676	ENST00000304374	T	0.36699	1.24	4.73	4.73	0.59995	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.63189	0.2490	M	0.79805	2.47	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68815	-0.5309	10	0.72032	D	0.01	.	16.9019	0.86116	0.0:0.0:1.0:0.0	.	335	P21918	DRD5_HUMAN	F	335	ENSP00000306129:C335F	ENSP00000306129:C335F	C	+	2	0	DRD5	9393755	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	9.202000	0.95026	2.457000	0.83068	0.460000	0.39030	TGC		0.587	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250293.1		
NKX3-2	579	broad.mit.edu	37	4	13543971	13543971	+	Silent	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:13543971C>G	ENST00000382438.5	-	2	1283	c.648G>C	c.(646-648)gcG>gcC	p.A216A		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	216					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGAAGACCTGCGCGTGGGAGA	0.741																																						uc003gmx.2																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(646-648)gcG>gcC		Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.																																				SO:0001819	synonymous_variant	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13543971C>G	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.648G>C	4.37:g.13543971C>G							p.A216A	NM_001189	NP_001180	P78367	NKX32_HUMAN			1	724	-			216					Q2M2I7	Silent	SNP	ENST00000382438.5	37	c.648G>C	CCDS3410.1																																																																																				0.741	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3		
NKX3-2	579	broad.mit.edu	37	4	13543978	13543978	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:13543978G>A	ENST00000382438.5	-	2	1276	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	214					determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|intestinal epithelial cell development (GO:0060576)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of chondrocyte differentiation (GO:0032331)|organ formation (GO:0048645)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|skeletal system morphogenesis (GO:0048705)|spleen development (GO:0048536)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CTGCGCGTGGGAGAAAGCGGC	0.751																																						uc003gmx.2																			0				breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						c.(640-642)tCc>tTc		Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.							4.0	6.0	5.0					4																	13543978		2074	4158	6232	SO:0001583	missense	579				negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr4:13543978G>A	AF009801	CCDS3410.1	4p16.3	2012-03-09	2007-07-26	2007-07-26	ENSG00000109705	ENSG00000109705		"""Homeoboxes / ANTP class : NKL subclass"""	951	protein-coding gene	gene with protein product		602183	"""bagpipe homeobox homolog 1 (Drosophila)"""	BAPX1		9344671	Standard	NM_001189		Approved	NKX3B, NKX3.2	uc003gmx.2	P78367	OTTHUMG00000090657	ENST00000382438.5:c.641C>T	4.37:g.13543978G>A	ENSP00000371875:p.Ser214Phe						p.S214F	NM_001189	NP_001180	P78367	NKX32_HUMAN			1	717	-			214					Q2M2I7	Missense_Mutation	SNP	ENST00000382438.5	37	c.641C>T	CCDS3410.1	.	.	.	.	.	.	.	.	.	.	G	32	5.138743	0.94560	.	.	ENSG00000109705	ENST00000382438	D	0.96459	-4.02	5.3	4.45	0.53987	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98507	0.9502	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98802	1.0740	10	0.87932	D	0	.	12.1017	0.53788	0.0842:0.0:0.9158:0.0	.	214	P78367	NKX32_HUMAN	F	214	ENSP00000371875:S214F	ENSP00000371875:S214F	S	-	2	0	NKX3-2	13153076	1.000000	0.71417	0.992000	0.48379	0.992000	0.81027	6.556000	0.73932	2.480000	0.83734	0.555000	0.69702	TCC		0.751	NKX3-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207317.3		
KLF3	51274	broad.mit.edu	37	4	38698729	38698729	+	Nonsense_Mutation	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:38698729G>T	ENST00000261438.5	+	6	1188	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	295					cellular response to peptide (GO:1901653)|multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ATGTACATGGGAAGGGTGCAC	0.403																																						uc003gth.4																			0				endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						c.(883-885)Gaa>Taa		Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.							110.0	101.0	104.0					4																	38698729		2203	4300	6503	SO:0001587	stop_gained	51274				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:38698729G>T	AF285837	CCDS3444.1	4p16.1-p15.2	2013-01-08			ENSG00000109787	ENSG00000109787		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	16516	protein-coding gene	gene with protein product	"""basic Kruppel-like factor"""	609392				18391014	Standard	NM_016531		Approved	BKLF	uc003gth.4	P57682	OTTHUMG00000097821	ENST00000261438.5:c.883G>T	4.37:g.38698729G>T	ENSP00000261438:p.Glu295*						p.E295*	NM_016531	NP_057615	P57682	KLF3_HUMAN			5	1215	+			295					Q6PIR1|Q86TN0|Q9P2X6	Nonsense_Mutation	SNP	ENST00000261438.5	37	c.883G>T	CCDS3444.1	.	.	.	.	.	.	.	.	.	.	G	39	7.541076	0.98348	.	.	ENSG00000109787	ENST00000261438	.	.	.	6.01	6.01	0.97437	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	.	20.5211	0.99222	0.0:0.0:1.0:0.0	.	.	.	.	X	295	.	ENSP00000261438:E295X	E	+	1	0	KLF3	38375124	1.000000	0.71417	1.000000	0.80357	0.765000	0.43378	9.869000	0.99810	2.861000	0.98227	0.650000	0.86243	GAA		0.403	KLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215093.2		
TLL1	7092	broad.mit.edu	37	4	166978363	166978363	+	Missense_Mutation	SNP	G	G	A	rs141877254	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:166978363G>A	ENST00000061240.2	+	14	2395	c.1748G>A	c.(1747-1749)cGt>cAt	p.R583H	TLL1_ENST00000507499.1_Missense_Mutation_p.R606H	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	583	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAACCTGACCGTGGAGGCTGT	0.473													G|||	3	0.000599042	0.0	0.0	5008	,	,		18023	0.002		0.0	False		,,,				2504	0.001					uc003irh.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77						c.(1747-1749)cGt>cAt		Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.		G	HIS/ARG	0,4406		0,0,2203	175.0	168.0	170.0		1748	4.9	1.0	4	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	yes	missense	TLL1	NM_012464.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	583/1014	166978363	1,13005	2203	4300	6503	SO:0001583	missense	7092				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	g.chr4:166978363G>A	AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1748G>A	4.37:g.166978363G>A	ENSP00000061240:p.Arg583His					TLL1_uc011cjn.2_Missense_Mutation_p.R606H|TLL1_uc011cjo.2_Missense_Mutation_p.R407H	p.R583H	NM_012464	NP_036596	O43897	TLL1_HUMAN		GBM - Glioblastoma multiforme(119;0.103)	13	2395	+	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)	583			EGF-like 1; calcium-binding (Potential).		B2RMU2|Q96AN3|Q9NQS4	Missense_Mutation	SNP	ENST00000061240.2	37	c.1748G>A	CCDS3811.1	2	9.157509157509158E-4	0	0.0	0	0.0	2	0.0034965034965034965	0	0.0	G	8.419	0.845919	0.16963	0.0	1.16E-4	ENSG00000038295	ENST00000061240;ENST00000507499	D;D	0.96522	-4.04;-4.04	5.85	4.9	0.64082	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.121454	0.53938	U	0.000053	D	0.91429	0.7295	N	0.20986	0.625	0.80722	D	1	P;P	0.50617	0.868;0.937	P;P	0.49226	0.502;0.603	D	0.86755	0.1963	10	0.10636	T	0.68	.	3.8709	0.09036	0.3232:0.0:0.6768:0.0	.	606;583	E9PD25;O43897	.;TLL1_HUMAN	H	583;606	ENSP00000061240:R583H;ENSP00000426082:R606H	ENSP00000061240:R583H	R	+	2	0	TLL1	167197813	1.000000	0.71417	0.992000	0.48379	0.107000	0.19398	3.849000	0.55910	2.761000	0.94854	0.650000	0.86243	CGT		0.473	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363821.1		
GPR98	84059	broad.mit.edu	37	5	89910651	89910651	+	Splice_Site	SNP	G	G	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:89910651G>T	ENST00000405460.2	+	2	118		c.e2-1			NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTGTTTTAGGGATGCCCTC	0.274																																						uc003kju.3																			0				NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269						c.e2-1		Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.							28.0	26.0	26.0					5																	89910651		1792	4051	5843	SO:0001630	splice_region_variant	84059				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	g.chr5:89910651G>T	AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.23-1G>T	5.37:g.89910651G>T						GPR98_uc003kjt.3_Splice_Site	p.G8_splice	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)	2	119	+		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)	8					O75171|Q8TF58|Q9H0X5|Q9UL61	Splice_Site	SNP	ENST00000405460.2	37	c.23_splice	CCDS47246.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.005677|4.005677	0.74932|0.74932	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000508842;ENST00000405460|ENST00000296619;ENST00000399043	.|.	.|.	.|.	5.93|5.93	5.93|5.93	0.95920|0.95920	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.82116	.|0.4967	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.83121	.|-0.0118	.|6	.|0.87932	.|D	.|0	.|.	20.3465|20.3465	0.98790|0.98790	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|W	-1|8	.|.	.|ENSP00000296619:G8W	.|G	+|+	.|1	.|0	GPR98|GPR98	89946407|89946407	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.781000|0.781000	0.44180|0.44180	8.108000|8.108000	0.89559|0.89559	2.798000|2.798000	0.96311|0.96311	0.655000|0.655000	0.94253|0.94253	.|GGG		0.274	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	Intron
SLCO6A1	133482	broad.mit.edu	37	5	101724473	101724473	+	Missense_Mutation	SNP	G	G	A	rs140805258	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:101724473G>A	ENST00000506729.1	-	12	2107	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R393W|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R393W|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R584W|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R646W			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	646						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTAACATCCCGTAAAATACAA	0.313													G|||	15	0.00299521	0.0113	0.0	5008	,	,		15028	0.0		0.0	False		,,,				2504	0.0					uc003knn.3																			0		p.R646L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(1936-1938)Cgg>Tgg		Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.		G	TRP/ARG	22,4382	29.9+/-59.1	0,22,2180	70.0	69.0	70.0		1936	-0.2	0.0	5	dbSNP_134	70	0,8590		0,0,4295	yes	missense	SLCO6A1	NM_173488.3	101	0,22,6475	AA,AG,GG		0.0,0.4995,0.1693	benign	646/720	101724473	22,12972	2202	4295	6497	SO:0001583	missense	133482					integral to membrane|plasma membrane	transporter activity	g.chr5:101724473G>A	AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1936C>T	5.37:g.101724473G>A	ENSP00000421339:p.Arg646Trp					SLCO6A1_uc003kno.3_Missense_Mutation_p.R393W|SLCO6A1_uc003knp.3_Missense_Mutation_p.R646W|SLCO6A1_uc003knq.3_Missense_Mutation_p.R584W	p.R646W	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)	11	2108	-		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)	646					A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Missense_Mutation	SNP	ENST00000506729.1	37	c.1936C>T	CCDS34206.1	.	.	.	.	.	.	.	.	.	.	G	6.684	0.494894	0.12702	0.004995	0.0	ENSG00000205359	ENST00000506729;ENST00000379807;ENST00000389019;ENST00000513675;ENST00000379810	T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12	5.06	-0.152	0.13407	Major facilitator superfamily domain, general substrate transporter (1);	0.984997	0.08296	N	0.967665	T	0.05731	0.0150	N	0.02420	-0.555	0.09310	N	1	B;B;B	0.28900	0.227;0.213;0.068	B;B;B	0.24848	0.043;0.056;0.037	T	0.32134	-0.9918	10	0.02654	T	1	.	4.1607	0.10282	0.4524:0.1757:0.3719:0.0	.	584;393;646	Q86UG4-2;C9J020;Q86UG4	.;.;SO6A1_HUMAN	W	646;646;584;393;393	ENSP00000421339:R646W;ENSP00000369135:R646W;ENSP00000373671:R584W;ENSP00000421990:R393W;ENSP00000369138:R393W	ENSP00000369135:R646W	R	-	1	2	SLCO6A1	101752372	0.080000	0.21391	0.000000	0.03702	0.000000	0.00434	0.611000	0.24268	0.046000	0.15833	-0.157000	0.13467	CGG		0.313	SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
MCC	4163	broad.mit.edu	37	5	112824048	112824049	+	In_Frame_Ins	INS	-	-	GCC	rs35336557|rs531679771|rs370593160	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:112824048_112824049insGCC	ENST00000408903.3	-	1	478_479	c.63_64insGGC	c.(61-66)ggcagc>ggcGGCagc	p.21_22insG		NM_001085377.1	NP_001078846	P23508	CRCM_HUMAN	mutated in colorectal cancers	0					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ctgctgccgctgccgccgccgc	0.738														1663	0.332069	0.0227	0.3487	5008	,	,		8489	0.5208		0.3668	False		,,,				2504	0.5082					uc003kql.4																			0		p.S22*(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						c.(61-66)insGGC		Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.																																				SO:0001652	inframe_insertion	4163				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	g.chr5:112824048_112824049insGCC		CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000408903.3:c.61_63dupGGC	5.37:g.112824055_112824057dupGCC	ENSP00000386227:p.Gly22_Gly23dup						p.21_22insG	NM_001085377	NP_001078846	P23508	CRCM_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)	0	479_480	-		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)	549					D3DT05|Q6ZR04	In_Frame_Ins	INS	ENST00000408903.3	37	c.63_64insGGC	CCDS43351.1																																																																																				0.738	MCC-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370839.1	NM_001085377	
CD14	929	broad.mit.edu	37	5	140011717	140011717	+	Silent	SNP	C	C	T	rs150900616		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:140011717C>T	ENST00000302014.6	-	2	1481	c.852G>A	c.(850-852)tcG>tcA	p.S284S	CD14_ENST00000401743.2_Silent_p.S284S	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	284					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGCGAACGACAGATTGA	0.617																																						uc003lgi.2																			0				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6						c.(850-852)tcG>tcA		Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.							60.0	57.0	58.0					5																	140011717		2203	4300	6503	SO:0001819	synonymous_variant	929				apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity	g.chr5:140011717C>T		CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.852G>A	5.37:g.140011717C>T						CD14_uc003lgj.2_Silent_p.S284S|CD14_uc021yej.1_Silent_p.S284S|CD14_uc021yek.1_Silent_p.S284S|CD14_uc021yel.1_Silent_p.S153S	p.S284S	NM_000591	NP_001167576	P08571	CD14_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1231	-			284					Q53XT5|Q96FR6|Q96L99|Q9UNS3	Silent	SNP	ENST00000302014.6	37	c.852G>A	CCDS4232.1																																																																																				0.617	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251681.2	NM_000591	
WWC1	23286	broad.mit.edu	37	5	167880985	167880985	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:167880985G>A	ENST00000265293.4	+	18	3040	c.2538G>A	c.(2536-2538)gaG>gaA	p.E846E	WWC1_ENST00000522140.1_3'UTR|WWC1_ENST00000521089.1_Silent_p.E846E	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	846	Glu-rich.|Interaction with histone H3.				cell migration (GO:0016477)|establishment of cell polarity (GO:0030010)|hippo signaling (GO:0035329)|negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of MAPK cascade (GO:0043410)|regulation of hippo signaling (GO:0035330)|regulation of intracellular transport (GO:0032386)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle membrane (GO:0032587)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)|transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTATGAGGAGACCAGTGAGA	0.537																																						uc003lzu.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43						c.(2536-2538)gaG>gaA		Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.							68.0	63.0	65.0					5																	167880985		2203	4300	6503	SO:0001819	synonymous_variant	23286				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	g.chr5:167880985G>A	AF506799	CCDS4366.1, CCDS54945.1	5q34	2014-06-13	2006-11-09		ENSG00000113645	ENSG00000113645		"""WW, C2 and coiled-coil domain containing"""	29435	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 168"""	610533	"""WW, C2 and coiled-coil domain containing 1"""			10048485, 12559952	Standard	NM_001161661		Approved	KIBRA, KIAA0869, PPP1R168	uc011den.2	Q8IX03	OTTHUMG00000130408	ENST00000265293.4:c.2538G>A	5.37:g.167880985G>A						WWC1_uc003lzv.3_Silent_p.E846E|WWC1_uc011den.2_Silent_p.E846E|WWC1_uc003lzw.3_Silent_p.E645E|WWC1_uc010jjf.1_Silent_p.E118E	p.E846E	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)	17	2631	+	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	846			Glu-rich.|Interaction with histone H3.		B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Silent	SNP	ENST00000265293.4	37	c.2538G>A	CCDS4366.1	.	.	.	.	.	.	.	.	.	.	G	5.917	0.353306	0.11182	.	.	ENSG00000113645	ENST00000393895;ENST00000524228	.	.	.	4.64	2.66	0.31614	.	.	.	.	.	T	0.56140	0.1965	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51172	-0.8739	4	.	.	.	.	7.9263	0.29876	0.0:0.1747:0.6458:0.1795	.	.	.	.	N	808;623	.	.	D	+	1	0	WWC1	167813563	0.997000	0.39634	0.996000	0.52242	0.681000	0.39784	0.355000	0.20163	1.049000	0.40321	0.637000	0.83480	GAC		0.537	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	
FLOT1	10211	broad.mit.edu	37	6	30697825	30697826	+	Frame_Shift_Del	DEL	TT	TT	-	rs113030936	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:30697825_30697826delTT	ENST00000376389.3	-	12	1447_1448	c.1227_1228delAA	c.(1225-1230)gaaagafs	p.R410fs	FLOT1_ENST00000456573.2_Frame_Shift_Del_p.R362fs	NM_005803.2	NP_005794.1	P41440	S19A1_HUMAN	flotillin 1	0					folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13					Methotrexate(DB00563)|Pralatrexate(DB06813)	CCTGTGAGTCTTTCCACACTCT	0.53																																						uc003nrm.3																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						c.(1225-1230)gaaagafs		Homo sapiens flotillin 1 (FLOT1), mRNA.																																				SO:0001589	frameshift_variant	10211					centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction		g.chr6:30697825_30697826delTT	AF089750	CCDS4688.1	6p21.3	2010-02-17			ENSG00000137312	ENSG00000137312			3757	protein-coding gene	gene with protein product		606998					Standard	XM_005248780		Approved		uc003nrm.3	O75955	OTTHUMG00000031151	ENST00000376389.3:c.1227_1228delAA	6.37:g.30697825_30697826delTT	ENSP00000365569:p.Arg410fs					FLOT1_uc011dmr.2_Frame_Shift_Del_p.E361fs	p.E409fs	NM_005803	NP_005794	O75955	FLOT1_HUMAN			11	1391_1392	-			409					B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Frame_Shift_Del	DEL	ENST00000376389.3	37	c.1227_1228delAA	CCDS4688.1																																																																																				0.530	FLOT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076276.2		
STK19	8859	broad.mit.edu	37	6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:31939829_31939830insA	ENST00000375333.2	+	1	109_110	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375356.3_5'Flank|STK19_ENST00000375331.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_032454.1	NP_115830.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20					protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634																																						uc003nyv.3																			0				skin(5)|upper_aerodigestive_tract(2)	7						c.(55-57)gcafs		Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.																																				SO:0001589	frameshift_variant	8859					nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:31939829_31939830insA	X77474	CCDS4733.1, CCDS34417.1	6p21.33	2011-09-15			ENSG00000204344	ENSG00000204344			11398	protein-coding gene	gene with protein product		604977				8012361, 9812991	Standard	NM_032454		Approved	D6S60, G11, RP1	uc003nyv.3	P49842	OTTHUMG00000166424	ENST00000375333.2:c.59dupA	6.37:g.31939832_31939832dupA	ENSP00000364482:p.Asn20fs					DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	p.A19fs	NM_032454	NP_115830	P49842	STK19_HUMAN			0	184_185	+			19					A6NF95|A6NFW8|B0QZR5|Q13159|Q31617|Q5JP77|Q5ST72|Q5ST75	Frame_Shift_Ins	INS	ENST00000375333.2	37	c.56_57insA	CCDS4733.1																																																																																				0.634	STK19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076484.3		
LGSN	51557	broad.mit.edu	37	6	63990164	63990164	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:63990164A>C	ENST00000370657.4	-	4	1325	c.1292T>G	c.(1291-1293)cTt>cGt	p.L431R	LGSN_ENST00000370658.5_3'UTR			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	431					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACTGCTATGAAGTCCATCTAA	0.478																																						uc003peh.3																			0				NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						c.(1291-1293)cTt>cGt		Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	L-Glutamic Acid(DB00142)						67.0	68.0	67.0					6																	63990164		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63990164A>C	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.1292T>G	6.37:g.63990164A>C	ENSP00000359691:p.Leu431Arg					LGSN_uc003pei.3_3'UTR	p.L431R	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			3	1326	-			431					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.1292T>G	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	A	14.41	2.527252	0.44969	.	.	ENSG00000146166	ENST00000370657	D	0.86694	-2.16	5.96	5.96	0.96718	Glutamine synthetase/guanido kinase, catalytic domain (1);	0.095578	0.64402	D	0.000001	D	0.91216	0.7232	M	0.78456	2.415	0.80722	D	1	D	0.61697	0.99	P	0.60682	0.878	D	0.92458	0.5975	10	0.87932	D	0	-28.2381	15.6296	0.76893	1.0:0.0:0.0:0.0	.	431	Q5TDP6	LGSN_HUMAN	R	431	ENSP00000359691:L431R	ENSP00000359691:L431R	L	-	2	0	LGSN	64048123	1.000000	0.71417	0.997000	0.53966	0.015000	0.08874	8.962000	0.93254	2.285000	0.76669	0.533000	0.62120	CTT		0.478	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
FILIP1	27145	broad.mit.edu	37	6	76024397	76024397	+	Missense_Mutation	SNP	C	C	T	rs147080592		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:76024397C>T	ENST00000237172.7	-	5	1481	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	FILIP1_ENST00000370020.1_Missense_Mutation_p.R285Q|FILIP1_ENST00000393004.2_Missense_Mutation_p.R384Q|FILIP1_ENST00000498523.1_5'UTR	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	384								p.R384Q(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CACACGCTTTCGAAGATTTTC	0.418																																						uc010kbe.3																			1	Substitution - Missense(1)	p.R384Q(1)	skin(1)	breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						c.(1159-1161)cGa>cAa		Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.		C	GLN/ARG	0,4406		0,0,2203	180.0	180.0	180.0		1151	5.7	0.8	6	dbSNP_134	180	1,8599	1.2+/-3.3	0,1,4299	no	missense	FILIP1	NM_015687.2	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	384/1214	76024397	1,13005	2203	4300	6503	SO:0001583	missense	27145							g.chr6:76024397C>T	AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.1151G>A	6.37:g.76024397C>T	ENSP00000237172:p.Arg384Gln					FILIP1_uc003phy.1_Missense_Mutation_p.R384Q|FILIP1_uc003phz.3_Missense_Mutation_p.R285Q|FILIP1_uc003pia.3_Missense_Mutation_p.R384Q|FILIP1_uc003pib.1_Missense_Mutation_p.R136Q	p.R387Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN			5	1690	-			384					B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Missense_Mutation	SNP	ENST00000237172.7	37	c.1160G>A	CCDS4984.1	.	.	.	.	.	.	.	.	.	.	C	19.46	3.832594	0.71258	0.0	1.16E-4	ENSG00000118407	ENST00000393004;ENST00000237172;ENST00000370020	T;T;T	0.35789	1.3;1.29;1.29	5.65	5.65	0.86999	.	0.063350	0.64402	D	0.000004	T	0.53674	0.1811	M	0.76838	2.35	0.80722	D	1	D;D;D	0.71674	0.966;0.996;0.998	B;P;P	0.59948	0.205;0.738;0.866	T	0.54330	-0.8310	10	0.54805	T	0.06	-13.8966	20.0965	0.97849	0.0:1.0:0.0:0.0	.	384;384;384	A8K2G7;Q7Z7B0;Q7Z7B0-2	.;FLIP1_HUMAN;.	Q	384;384;285	ENSP00000376728:R384Q;ENSP00000237172:R384Q;ENSP00000359037:R285Q	ENSP00000237172:R384Q	R	-	2	0	FILIP1	76081117	1.000000	0.71417	0.848000	0.33437	0.800000	0.45204	6.039000	0.70972	2.824000	0.97209	0.655000	0.94253	CGA		0.418	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041263.1	XM_029179	
CASP8AP2	9994	broad.mit.edu	37	6	90577200	90577200	+	RNA	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:90577200G>A	ENST00000551025.1	+	0	5628									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTTCATTGCCGGTTCATCCTG	0.393																																					Colon(187;1656 2025 17045 31481 39901)	uc003pnr.3																			0				NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51						c.(4189-4191)ccG>ccA		Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.							83.0	84.0	84.0					6																	90577200		1896	4126	6022			9994				cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity	g.chr6:90577200G>A	AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577200G>A						CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Silent_p.P1397P|CASP8AP2_uc011dzz.2_Silent_p.P1397P	p.P1397P	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0953)	7	4387	+		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)	1397						Silent	SNP	ENST00000551025.1	37	c.4191G>A																																																																																					0.393	CASP8AP2-202	KNOWN	basic	processed_transcript	processed_transcript		NM_001137667	
SYNE1	23345	broad.mit.edu	37	6	152461140	152461140	+	Missense_Mutation	SNP	C	C	T	rs143049227		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:152461140C>T	ENST00000367255.5	-	140	26004	c.25403G>A	c.(25402-25404)cGt>cAt	p.R8468H	SYNE1_ENST00000341594.5_Missense_Mutation_p.R8080H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8420H|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2992H|SYNE1_ENST00000354674.4_Missense_Mutation_p.R646H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8468H|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000539504.1_Missense_Mutation_p.R623H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8420H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8468			R -> H (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)	p.R8468H(5)		NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GAGTTCCAGACGCTGGAGCTG	0.557										HNSCC(10;0.0054)																												uc021zhb.1																			5	Substitution - Missense(5)	p.R8468H(8)	NS(2)|central_nervous_system(2)|large_intestine(1)	NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(25402-25404)cGt>cAt		Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.		C	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	119.0	97.0	104.0		25259,25403	1.6	0.0	6	dbSNP_134	104	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	SYNE1	NM_033071.3,NM_182961.3	29,29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	8420/8750,8468/8798	152461140	2,13004	2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152461140C>T	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.25403G>A	6.37:g.152461140C>T	ENSP00000356224:p.Arg8468His	HNSCC(10;0.0054)				SYNE1_uc003qos.4_Missense_Mutation_p.R2992H|SYNE1_uc003qot.4_Missense_Mutation_p.R8420H|SYNE1_uc003qou.4_Missense_Mutation_p.R8468H|SYNE1_uc011eez.2_Missense_Mutation_p.R670H|SYNE1_uc003qoq.4_Missense_Mutation_p.R670H|SYNE1_uc003qor.4_Missense_Mutation_p.R1391H	p.R8468H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	137	25626	-		Ovarian(120;0.0955)	8468		R -> H (in a colorectal cancer sample; somatic mutation).			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.25403G>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	C	6.556	0.470783	0.12461	2.27E-4	1.16E-4	ENSG00000131018	ENST00000367255;ENST00000539504;ENST00000367257;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820;ENST00000313630;ENST00000367247;ENST00000367251;ENST00000354674	T;T;T;T;T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74;0.74	5.92	1.61	0.23674	.	0.227351	0.31156	N	0.008147	T	0.14442	0.0349	L	0.36672	1.1	0.09310	N	1	B;B;B;B;B	0.15930	0.015;0.015;0.012;0.015;0.008	B;B;B;B;B	0.17433	0.018;0.018;0.011;0.018;0.013	T	0.32481	-0.9905	10	0.21540	T	0.41	.	9.0212	0.36202	0.0:0.6038:0.0:0.3962	.	8468;8468;8420;8420;670	Q8NF91;E7EQI5;Q8NF91-4;E9PEL9;B7Z9Y6	SYNE1_HUMAN;.;.;.;.	H	8468;623;1114;8420;8468;8420;8080;2992;653;648;1413;646	ENSP00000356224:R8468H;ENSP00000441052:R623H;ENSP00000356226:R1114H;ENSP00000396024:R8420H;ENSP00000265368:R8468H;ENSP00000390975:R8420H;ENSP00000341887:R8080H;ENSP00000349276:R2992H;ENSP00000356220:R1413H;ENSP00000346701:R646H	ENSP00000265368:R8468H	R	-	2	0	SYNE1	152502833	0.000000	0.05858	0.037000	0.18230	0.206000	0.24218	-0.096000	0.11059	0.000000	0.14550	-0.254000	0.11334	CGT		0.557	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	
FNDC1	84624	broad.mit.edu	37	6	159653439	159653439	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:159653439G>A	ENST00000297267.9	+	11	2095	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	FNDC1_ENST00000340366.6_Missense_Mutation_p.R569H	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	632					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCTCTCATCGTCCTTCCCTG	0.682																																						uc010kjv.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1894-1896)cGt>cAt		Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.							36.0	41.0	39.0					6																	159653439		2073	4199	6272	SO:0001583	missense	84624					extracellular region		g.chr6:159653439G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1895G>A	6.37:g.159653439G>A	ENSP00000297267:p.Arg632His					FNDC1_uc010kjw.1_Missense_Mutation_p.R517H	p.R632H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	10	2095	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	632					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1895G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	13.47	2.247512	0.39697	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.07800	3.16;3.98	4.37	0.912	0.19349	.	1.153350	0.06505	N	0.737031	T	0.01523	0.0049	N	0.24115	0.695	0.09310	N	1	B;B	0.23650	0.089;0.053	B;B	0.17722	0.019;0.008	T	0.47898	-0.9081	10	0.41790	T	0.15	.	1.7801	0.03030	0.214:0.1602:0.4627:0.1631	.	569;632	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	H	632;569	ENSP00000297267:R632H;ENSP00000342460:R569H	ENSP00000297267:R632H	R	+	2	0	FNDC1	159573429	0.000000	0.05858	0.003000	0.11579	0.197000	0.23852	-0.371000	0.07513	0.288000	0.22398	0.655000	0.94253	CGT		0.682	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532	
GPNMB	10457	broad.mit.edu	37	7	23309680	23309680	+	Silent	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:23309680C>T	ENST00000381990.2	+	9	1512	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	GPNMB_ENST00000539136.1_Silent_p.L340L|GPNMB_ENST00000453162.2_Silent_p.L393L|GPNMB_ENST00000258733.4_Silent_p.L439L	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	451					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TGAGATGTGTCTGCTGACTGT	0.557																																						uc003swc.3																			0				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41						c.(1351-1353)Ctg>Ttg		Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.							197.0	150.0	166.0					7																	23309680		2203	4300	6503	SO:0001819	synonymous_variant	10457				negative regulation of cell proliferation	melanosome		g.chr7:23309680C>T	X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1351C>T	7.37:g.23309680C>T						GPNMB_uc003swb.3_Silent_p.L439L|GPNMB_uc011jyy.2_Silent_p.L393L|GPNMB_uc011jyz.2_Silent_p.L340L	p.L451L	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	GBM - Glioblastoma multiforme(13;0.154)		8	1512	+			451					A4D155|Q6UVX1|Q8N1A1	Silent	SNP	ENST00000381990.2	37	c.1351C>T	CCDS34610.1																																																																																				0.557	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000327152.1	NM_001005340	
FAM188B	84182	broad.mit.edu	37	7	30890151	30890151	+	Silent	SNP	A	A	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:30890151A>G	ENST00000265299.6	+	10	1604	c.1527A>G	c.(1525-1527)cgA>cgG	p.R509R	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_5'Flank|AQP1_ENST00000434909.2_5'Flank	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	509										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGGGGCCGAGAGAGAGCCG	0.622																																						uc003tbt.3																			0				endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(1525-1527)cgA>cgG		Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.							97.0	130.0	119.0					7																	30890151		2118	4219	6337	SO:0001819	synonymous_variant	84182							g.chr7:30890151A>G	AK026027	CCDS43565.1	7p14.3	2010-08-17	2009-07-14	2009-07-14	ENSG00000106125	ENSG00000106125			21916	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 67"""	C7orf67			Standard	NM_032222		Approved	FLJ22374	uc003tbt.3	Q4G0A6	OTTHUMG00000152800	ENST00000265299.6:c.1527A>G	7.37:g.30890151A>G						FAM188B_uc010kwe.3_Silent_p.R480R|FAM188B_uc011kac.1_5'Flank	p.R509R	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN			9	1604	+			509					Q71AZ7|Q9H6D2	Silent	SNP	ENST00000265299.6	37	c.1527A>G	CCDS43565.1																																																																																				0.622	FAM188B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327962.1	NM_032222	
HECW1	23072	broad.mit.edu	37	7	43360338	43360338	+	Missense_Mutation	SNP	G	G	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:43360338G>C	ENST00000395891.2	+	5	1062	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	HECW1_ENST00000453890.1_Missense_Mutation_p.E153Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	153					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTACTTTGTGGAACGTGAGTA	0.458																																						uc003tid.1																			0		p.T152S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						c.(457-459)Gaa>Caa		Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.							104.0	105.0	105.0					7																	43360338		1960	4150	6110	SO:0001583	missense	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43360338G>C	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.457G>C	7.37:g.43360338G>C	ENSP00000379228:p.Glu153Gln					HECW1_uc011kbi.1_Missense_Mutation_p.E153Q|HECW1_uc003tie.1_Missense_Mutation_p.E185Q	p.E153Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			4	1062	+			153					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Missense_Mutation	SNP	ENST00000395891.2	37	c.457G>C	CCDS5469.2	.	.	.	.	.	.	.	.	.	.	G	31	5.086802	0.94100	.	.	ENSG00000002746	ENST00000395891;ENST00000453890;ENST00000265522	T;T	0.36878	1.27;1.23	5.94	5.94	0.96194	.	0.095945	0.64402	D	0.000001	T	0.56366	0.1980	M	0.68593	2.085	0.80722	D	1	D;P;P	0.63880	0.993;0.496;0.89	P;B;B	0.56343	0.796;0.114;0.419	T	0.56341	-0.7995	10	0.72032	D	0.01	.	20.3736	0.98901	0.0:0.0:1.0:0.0	.	153;185;153	B4DH42;B3KR18;Q76N89	.;.;HECW1_HUMAN	Q	153;153;152	ENSP00000379228:E153Q;ENSP00000407774:E153Q	ENSP00000265522:E152Q	E	+	1	0	HECW1	43326863	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	7.799000	0.85936	2.820000	0.97059	0.650000	0.86243	GAA		0.458	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
MUC17	140453	broad.mit.edu	37	7	100687031	100687031	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:100687031G>A	ENST00000306151.4	+	3	12398	c.12334G>A	c.(12334-12336)Gct>Act	p.A4112T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4112					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCACCACCGCTGTCCCCAC	0.507																																						uc003uxp.1																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(12334-12336)Gct>Act		Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.							142.0	147.0	145.0					7																	100687031		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100687031G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.12334G>A	7.37:g.100687031G>A	ENSP00000302716:p.Ala4112Thr					MUC17_uc010lho.1_Non-coding_Transcript	p.A4112T	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN			2	12387	+	Lung NSC(181;0.136)|all_lung(186;0.182)		4112					O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.12334G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	G	3.492	-0.103581	0.06967	.	.	ENSG00000169876	ENST00000306151	T	0.01838	4.61	1.08	-0.912	0.10504	.	.	.	.	.	T	0.00998	0.0033	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.46992	-0.9151	9	0.05620	T	0.96	.	3.4712	0.07567	0.7229:0.0:0.2771:0.0	.	4112	Q685J3	MUC17_HUMAN	T	4112	ENSP00000302716:A4112T	ENSP00000302716:A4112T	A	+	1	0	MUC17	100473751	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.651000	0.05372	-0.511000	0.06514	-0.561000	0.04177	GCT		0.507	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105	
CDHR3	222256	broad.mit.edu	37	7	105660912	105660912	+	Frame_Shift_Del	DEL	A	A	-	rs374018960		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:105660912delA	ENST00000317716.9	+	13	1827	c.1747delA	c.(1747-1749)acafs	p.T583fs	CDHR3_ENST00000343407.5_Intron|CDHR3_ENST00000542731.1_Frame_Shift_Del_p.T583fs|CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000478080.1_Frame_Shift_Del_p.T495fs	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	583	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GAAAGTTGGCACAAATATTCA	0.428																																						uc003vdl.4																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(1747-1749)acafs		Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.							119.0	105.0	110.0					7																	105660912		1858	4113	5971	SO:0001589	frameshift_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105660912delA	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.1747delA	7.37:g.105660912delA	ENSP00000325954:p.Thr583fs					CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Frame_Shift_Del_p.T570fs|CDHR3_uc011klt.2_Frame_Shift_Del_p.T495fs|CDHR3_uc003vdn.3_Intron	p.T583fs	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN			12	1855	+			583			Cadherin 6.		Q8TCI7	Frame_Shift_Del	DEL	ENST00000317716.9	37	c.1747delA	CCDS47684.1																																																																																				0.428	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750	
PPP1R3A	5506	broad.mit.edu	37	7	113558442	113558442	+	Nonsense_Mutation	SNP	T	T	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:113558442T>A	ENST00000284601.3	-	1	678	c.610A>T	c.(610-612)Aaa>Taa	p.K204*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	204	CBM21. {ECO:0000255|PROSITE- ProRule:PRU00491}.				glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AACTCAACTTTACTGCCATCT	0.318																																						uc010ljy.1																			0				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(610-612)Aaa>Taa		Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.							107.0	102.0	104.0					7																	113558442		2203	4299	6502	SO:0001587	stop_gained	5506				glycogen metabolic process	integral to membrane		g.chr7:113558442T>A	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.610A>T	7.37:g.113558442T>A	ENSP00000284601:p.Lys204*						p.K204*	NM_002711	NP_002702	Q16821	PPR3A_HUMAN			0	641	-			204			CBM21.		A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	ENST00000284601.3	37	c.610A>T	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	T	37	6.528898	0.97641	.	.	ENSG00000154415	ENST00000284601	.	.	.	6.08	6.08	0.98989	.	0.248978	0.41294	D	0.000908	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.108	11.6956	0.51542	0.1319:0.0:0.0:0.8681	.	.	.	.	X	204	.	ENSP00000284601:K204X	K	-	1	0	PPP1R3A	113345678	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.645000	0.67909	2.333000	0.79357	0.482000	0.46254	AAA		0.318	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711	
BRAF	673	broad.mit.edu	37	7	140453141	140453141	+	Silent	SNP	A	A	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:140453141A>T	ENST00000288602.6	-	15	1854	c.1794T>A	c.(1792-1794)gcT>gcA	p.A598A		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	598	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.A598_T599insV(6)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	ATTTCACTGTAGCTAGACCAA	0.368		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	uc003vwc.4		61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	6	Insertion - In frame(6)	p.L597R(16)|p.A598_T599insV(13)|p.L597V(13)|p.L597S(13)|p.L597Q(13)|p.A598V(4)|p.L597L(3)|p.L597_A598insT(2)|p.A598T(1)|p.D594_T599del(1)	thyroid(6)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1792-1794)gcT>gcA		Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	Sorafenib(DB00398)						110.0	103.0	105.0					7																	140453141		2203	4300	6503	SO:0001819	synonymous_variant	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453141A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1794T>A	7.37:g.140453141A>T							p.A598A	NM_004333	NP_004324	P15056	BRAF_HUMAN			14	1855	-	Melanoma(164;0.00956)		598			Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	c.1794T>A	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.545753	0.27652	.	.	ENSG00000157764	ENST00000496384	.	.	.	5.65	3.51	0.40186	.	.	.	.	.	T	0.45276	0.1334	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.40572	-0.9556	4	.	.	.	.	2.5918	0.04844	0.2562:0.0:0.3468:0.397	.	.	.	.	Q	206	.	.	L	-	2	0	BRAF	140099610	0.969000	0.33509	1.000000	0.80357	0.996000	0.88848	0.211000	0.17474	1.395000	0.46643	-0.182000	0.12963	CTA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
CSMD1	64478	broad.mit.edu	37	8	2832079	2832079	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:2832079G>A	ENST00000520002.1	-	57	9192	c.8637C>T	c.(8635-8637)ggC>ggT	p.G2879G	CSMD1_ENST00000542608.1_Silent_p.G2820G|CSMD1_ENST00000602557.1_Silent_p.G2879G|CSMD1_ENST00000537824.1_Silent_p.G2878G|CSMD1_ENST00000602723.1_Silent_p.G2821G|CSMD1_ENST00000400186.3_Silent_p.G2821G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2879	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.G2607G(1)|p.G2878G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCACGACGGCGCCATAGGTAA	0.557																																						uc022aqr.1																			2	Substitution - coding silent(2)	p.G2607G(1)|p.G2878G(1)	large_intestine(2)	breast(20)|large_intestine(5)	25						c.(8632-8634)ggC>ggT		Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.							45.0	48.0	47.0					8																	2832079		2003	4163	6166	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:2832079G>A			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8637C>T	8.37:g.2832079G>A						CSMD1_uc011kwj.2_Silent_p.G2208G|CSMD1_uc010lrg.3_Silent_p.G889G	p.G2878G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	55	9024	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	2879			Sushi 21.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.8634C>T		.	.	.	.	.	.	.	.	.	.	G	5.485	0.274553	0.10403	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.66	-7.93	0.01156	.	.	.	.	.	T	0.34366	0.0895	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39860	-0.9593	4	.	.	.	.	1.8228	0.03114	0.2475:0.0938:0.3635:0.2952	.	.	.	.	C	2296	.	.	R	-	1	0	CSMD1	2819486	0.002000	0.14202	0.005000	0.12908	0.002000	0.02628	-0.924000	0.03996	-1.462000	0.01907	-0.878000	0.02970	CGC		0.557	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225	
USP17L2	377630	broad.mit.edu	37	8	11995987	11995987	+	Silent	SNP	G	G	A	rs3988861	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:11995987G>A	ENST00000333796.3	-	1	599	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	FAM66D_ENST00000434078.2_RNA	NM_001256869.1|NM_001256871.1|NM_001256872.1|NM_001256873.1|NM_001256874.1|NM_201402.2	NP_001243798.1|NP_001243800.1|NP_001243801.1|NP_001243802.1|NP_001243803.1|NP_958804.2	Q6R6M4	U17L2_HUMAN	ubiquitin specific peptidase 17-like family member 2	95	USP.				apoptotic process (GO:0006915)|CAAX-box protein processing (GO:0071586)|cell cycle checkpoint (GO:0000075)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of histone deacetylation (GO:0031064)|negative regulation of protein processing (GO:0010955)|negative regulation of protein targeting to membrane (GO:0090315)|negative regulation of Ras GTPase activity (GO:0034261)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of RIG-I signaling pathway (GO:1900246)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of apoptotic process (GO:0042981)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of defense response to virus by host (GO:0050691)|regulation of ruffle assembly (GO:1900027)|ubiquitin-dependent protein catabolic process (GO:0006511)	endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.L95L(1)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AGGCACTGCAGGGAAGCGTTC	0.567																																						uc003wvc.1																			1	Substitution - coding silent(1)	p.L95L(2)	skin(1)	central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						c.(283-285)Ctg>Ttg		Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.							35.0	42.0	40.0					8																	11995987		1440	2909	4349	SO:0001819	synonymous_variant	377630				apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr8:11995987G>A	BC156290	CCDS43713.1	8p23.1	2012-10-09	2012-10-09		ENSG00000223443	ENSG00000223443			34434	protein-coding gene	gene with protein product	"""deubiquitinating enzyme 3"""	610186	"""ubiquitin specific peptidase 17-like 2"""				Standard	NM_201402		Approved	DUB3	uc003wvc.1	Q6R6M4	OTTHUMG00000165295	ENST00000333796.3:c.283C>T	8.37:g.11995987G>A						LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	p.L95L	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN			0	283	-			95						Silent	SNP	ENST00000333796.3	37	c.283C>T	CCDS43713.1																																																																																				0.567	USP17L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383303.2	NM_201402	
SLC7A2	6542	broad.mit.edu	37	8	17422587	17422587	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:17422587G>A	ENST00000494857.1	+	13	2127	c.1909G>A	c.(1909-1911)Gca>Aca	p.A637T	SLC7A2_ENST00000470360.1_Missense_Mutation_p.A676T|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A677T|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A637T|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A676T	NM_001008539.3	NP_001008539.3	P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	637					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|macrophage activation (GO:0042116)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide production involved in inflammatory response (GO:0002537)|regulation of inflammatory response (GO:0050727)|regulation of macrophage activation (GO:0043030)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	basic amino acid transmembrane transporter activity (GO:0015174)|high-affinity arginine transmembrane transporter activity (GO:0005289)|L-lysine transmembrane transporter activity (GO:0015189)|L-ornithine transmembrane transporter activity (GO:0000064)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCCATTCAAGCAAATGACCA	0.423																																						uc011kye.2																			0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25						c.(2029-2031)Gca>Aca		Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	L-Lysine(DB00123)|L-Ornithine(DB00129)						127.0	103.0	111.0					8																	17422587		2203	4300	6503	SO:0001583	missense	6542				cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity	g.chr8:17422587G>A	D29990	CCDS6002.2, CCDS34852.1, CCDS55203.1	8p22	2013-05-22			ENSG00000003989	ENSG00000003989		"""Solute carriers"""	11060	protein-coding gene	gene with protein product		601872		ATRC2		8954799	Standard	NM_001164771		Approved	CAT-2, HCAT2	uc011kye.2	P52569	OTTHUMG00000130819	ENST00000494857.1:c.1909G>A	8.37:g.17422587G>A	ENSP00000419140:p.Ala637Thr					SLC7A2_uc011kyc.2_Missense_Mutation_p.A637T|SLC7A2_uc011kyd.2_Missense_Mutation_p.A676T	p.A677T	NM_001164771	NP_001158243	P52569	CTR2_HUMAN		Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	11	2077	+			637					B7ZL54|O15291|O15292|Q14CQ6|Q6NSZ7|Q86TC6	Missense_Mutation	SNP	ENST00000494857.1	37	c.2029G>A	CCDS34852.1	.	.	.	.	.	.	.	.	.	.	G	13.08	2.129140	0.37533	.	.	ENSG00000003989	ENST00000494857;ENST00000522656;ENST00000470360;ENST00000004531;ENST00000398090	D;D;D;D;D	0.88664	-2.22;-2.22;-2.41;-2.26;-2.41	5.51	3.65	0.41850	.	0.594602	0.16950	N	0.192945	T	0.81513	0.4838	L	0.27053	0.805	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.0	B;B;B	0.14023	0.01;0.005;0.003	T	0.65134	-0.6242	10	0.23302	T	0.38	.	12.6723	0.56874	0.0:0.1264:0.7419:0.1317	.	677;676;637	P52569-3;P52569-2;P52569	.;.;CTR2_HUMAN	T	637;637;676;677;676	ENSP00000419140:A637T;ENSP00000430464:A637T;ENSP00000419873:A676T;ENSP00000004531:A677T;ENSP00000381164:A676T	ENSP00000004531:A677T	A	+	1	0	SLC7A2	17466861	1.000000	0.71417	0.106000	0.21319	0.662000	0.39071	3.951000	0.56684	0.756000	0.33013	0.650000	0.86243	GCA		0.423	SLC7A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253367.3	NM_003046	
DOK2	9046	broad.mit.edu	37	8	21771096	21771096	+	Missense_Mutation	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:21771096A>C	ENST00000276420.4	-	1	275	c.17T>G	c.(16-18)gTg>gGg	p.V6G	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	6	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|leukocyte migration (GO:0050900)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)	receptor signaling protein activity (GO:0005057)			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCCTTGTTTCACTGCCCCGTC	0.582																																						uc003wzx.1																			0				NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26						c.(16-18)gTg>gGg		Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.							160.0	145.0	150.0					8																	21771096		2203	4300	6503	SO:0001583	missense	9046				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	g.chr8:21771096A>C	AF034970	CCDS6016.1	8p21.3	2008-08-07	2002-08-29		ENSG00000147443	ENSG00000147443			2991	protein-coding gene	gene with protein product		604997	"""docking protein 2, 56kD"""			9478921, 14645010	Standard	NM_003974		Approved	p56dok-2, Dok-2	uc003wzy.1	O60496	OTTHUMG00000131075	ENST00000276420.4:c.17T>G	8.37:g.21771096A>C	ENSP00000276420:p.Val6Gly					DOK2_uc003wzy.1_Missense_Mutation_p.V6G|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_5'UTR	p.V6G	NM_003974	NP_003965	O60496	DOK2_HUMAN		Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)	0	110	-			6			PH.		Q8N5A4	Missense_Mutation	SNP	ENST00000276420.4	37	c.17T>G	CCDS6016.1	.	.	.	.	.	.	.	.	.	.	A	15.68	2.905492	0.52333	.	.	ENSG00000147443	ENST00000276420;ENST00000523932	T;T	0.53206	1.56;0.63	5.06	5.06	0.68205	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.108147	0.38492	N	0.001669	T	0.57784	0.2077	M	0.68593	2.085	0.80722	D	1	P;D	0.52996	0.926;0.957	P;P	0.53313	0.636;0.723	T	0.60530	-0.7245	10	0.48119	T	0.1	.	13.0431	0.58910	1.0:0.0:0.0:0.0	.	6;6	O60496;A8K7W1	DOK2_HUMAN;.	G	6	ENSP00000276420:V6G;ENSP00000429224:V6G	ENSP00000276420:V6G	V	-	2	0	DOK2	21827042	0.998000	0.40836	0.992000	0.48379	0.072000	0.16883	4.491000	0.60326	1.887000	0.54652	0.460000	0.39030	GTG		0.582	DOK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253735.3	NM_003974	
ELP3	55140	broad.mit.edu	37	8	27954764	27954764	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:27954764G>A	ENST00000256398.8	+	2	425	c.48G>A	c.(46-48)atG>atA	p.M16I	ELP3_ENST00000523760.1_3'UTR|ELP3_ENST00000521015.1_Missense_Mutation_p.M2I|ELP3_ENST00000542181.1_De_novo_Start_OutOfFrame|ELP3_ENST00000537665.1_Intron|ELP3_ENST00000524103.1_Intron|ELP3_ENST00000380353.4_De_novo_Start_OutOfFrame	NM_001284220.1|NM_001284226.1|NM_018091.5	NP_001271149.1|NP_001271155.1|NP_060561.3	Q9H9T3	ELP3_HUMAN	elongator acetyltransferase complex subunit 3	16					chromatin organization (GO:0006325)|positive regulation of cell migration (GO:0030335)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)	histone acetyltransferase activity (GO:0004402)|iron-sulfur cluster binding (GO:0051536)|metal ion binding (GO:0046872)|phosphorylase kinase regulator activity (GO:0008607)			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AGCTGATGATGCTGACTATAG	0.368																																						uc003xgo.4																			0				kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(46-48)atG>atA		Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.							109.0	106.0	107.0					8																	27954764		2203	4300	6503	SO:0001583	missense	55140				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding	g.chr8:27954764G>A		CCDS6065.1, CCDS64860.1, CCDS64861.1, CCDS75717.1, CCDS75718.1	8p21.1	2012-08-14	2012-08-08		ENSG00000134014	ENSG00000134014		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Elongator acetyltransferase complex subunits"""	20696	protein-coding gene	gene with protein product		612722	"""elongation protein 3 homolog (S. cerevisiae)"""			11714725	Standard	NM_018091		Approved	FLJ10422, KAT9	uc003xgo.4	Q9H9T3	OTTHUMG00000102124	ENST00000256398.8:c.48G>A	8.37:g.27954764G>A	ENSP00000256398:p.Met16Ile					ELP3_uc003xgn.4_Missense_Mutation_p.M1I|ELP3_uc011las.2_Intron|ELP3_uc011lat.2_5'UTR|ELP3_uc011laq.2_Intron|ELP3_uc011lar.2_5'UTR	p.M16I	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)	1	196	+		Ovarian(32;0.0218)	16					B4DE19|B4DIG1|E2QRI5|Q53G84|Q6AWB0|Q9BVF7|Q9NVZ1	Missense_Mutation	SNP	ENST00000256398.8	37	c.48G>A	CCDS6065.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209440	0.39003	.	.	ENSG00000134014	ENST00000520270;ENST00000521015;ENST00000521570;ENST00000256398;ENST00000524024;ENST00000520288;ENST00000521099	.	.	.	6.02	3.99	0.46301	.	0.036995	0.85682	D	0.000000	T	0.42787	0.1218	L	0.38175	1.15	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.24977	-1.0145	9	0.27082	T	0.32	-28.6649	8.6776	0.34189	0.0891:0.158:0.7529:0.0	.	16	Q9H9T3	ELP3_HUMAN	I	2;2;2;16;16;2;2	.	ENSP00000256398:M16I	M	+	3	0	ELP3	28010683	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.434000	0.59935	2.865000	0.98341	0.655000	0.94253	ATG		0.368	ELP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219963.2	NM_018091	
PCMTD1	115294	broad.mit.edu	37	8	52733124	52733124	+	Silent	SNP	A	A	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:52733124A>C	ENST00000360540.5	-	7	1267	c.861T>G	c.(859-861)acT>acG	p.T287T	PCMTD1_ENST00000544451.1_Silent_p.T211T|PCMTD1_ENST00000522514.1_Silent_p.T287T|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	287						cytoplasm (GO:0005737)	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity (GO:0004719)			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAAATACGTAAGTGTTAATTC	0.393																																						uc003xqx.4																			0				NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37						c.(859-861)acT>acG		Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.							192.0	190.0	191.0					8																	52733124		2203	4300	6503	SO:0001819	synonymous_variant	115294					cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	g.chr8:52733124A>C		CCDS6148.1, CCDS69480.1	8q11.23	2010-08-05			ENSG00000168300	ENSG00000168300			30483	protein-coding gene	gene with protein product							Standard	XM_005251146		Approved	FLJ10883	uc003xqx.4	Q96MG8	OTTHUMG00000164246	ENST00000360540.5:c.861T>G	8.37:g.52733124A>C						PCMTD1_uc011ldm.2_Silent_p.T157T|PCMTD1_uc011ldn.2_Silent_p.T99T|PCMTD1_uc010lya.3_Silent_p.T211T	p.T287T	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN			5	1202	-		Lung NSC(129;0.0795)|all_lung(136;0.144)	287					Q96FK9	Silent	SNP	ENST00000360540.5	37	c.861T>G	CCDS6148.1																																																																																				0.393	PCMTD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377909.2	NM_052937	
REXO1L1P	254958	broad.mit.edu	37	8	86573777	86573777	+	Silent	SNP	C	C	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:86573777C>A	ENST00000379010.2	-	1	1949	c.1950G>T	c.(1948-1950)gtG>gtT	p.V650V		NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						CCTTCCACATCACCAGCTGCA	0.672																																						uc022axf.1																			0				endometrium(1)|lung(4)	5						c.(1948-1950)gtG>gtT		Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.							5.0	4.0	4.0					8																	86573777		1806	3671	5477	SO:0001819	synonymous_variant	254958					cytoplasm|nucleus	exonuclease activity|nucleic acid binding	g.chr8:86573777C>A																												ENST00000379010.2:c.1950G>T	8.37:g.86573777C>A							p.V650V	NM_172239	NP_758439	Q8IX06	GOR_HUMAN			0	1950	-			650						Silent	SNP	ENST00000379010.2	37	c.1950G>T																																																																																					0.672	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1		
ANGPT1	284	broad.mit.edu	37	8	108276567	108276567	+	Silent	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:108276567T>C	ENST00000520734.1	-	7	903	c.618A>G	c.(616-618)aaA>aaG	p.K206K	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.K205K			Q15389	ANGP1_HUMAN	angiopoietin 1	406					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CAGTGTGACCTTTTAAATACA	0.393																																						uc003ymn.3																			0				NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43						c.(1216-1218)aaA>aaG		Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.							103.0	94.0	97.0					8																	108276567		2203	4300	6503	SO:0001819	synonymous_variant	284				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding	g.chr8:108276567T>C	D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.618A>G	8.37:g.108276567T>C						ANGPT1_uc011lhv.2_Silent_p.K206K|ANGPT1_uc003ymo.3_Silent_p.K405K	p.K406K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)		7	1686	-	Breast(1;5.06e-08)		406			Fibrinogen C-terminal.		Q5HYA0	Silent	SNP	ENST00000520734.1	37	c.1218A>G																																																																																					0.393	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290	
MAMDC2	256691	broad.mit.edu	37	9	72755159	72755159	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr9:72755159G>A	ENST00000377182.4	+	8	1710	c.1093G>A	c.(1093-1095)Gta>Ata	p.V365I	MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	365	MAM 3. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCGAGTGAAAGTAAAACCAAA	0.458																																						uc004ahm.2																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.(1093-1095)Gta>Ata		Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.							139.0	130.0	133.0					9																	72755159		2203	4300	6503	SO:0001583	missense	256691					endoplasmic reticulum|membrane		g.chr9:72755159G>A	BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1093G>A	9.37:g.72755159G>A	ENSP00000366387:p.Val365Ile					MAMDC2_uc004ahn.2_Non-coding_Transcript	p.V365I	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN			7	1710	+			365			MAM 3.		Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	ENST00000377182.4	37	c.1093G>A	CCDS6631.1	.	.	.	.	.	.	.	.	.	.	G	15.94	2.980620	0.53827	.	.	ENSG00000165072	ENST00000377182	T	0.02121	4.44	6.02	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.106321	0.64402	D	0.000005	T	0.09818	0.0241	L	0.57536	1.79	0.54753	D	0.999987	D	0.67145	0.996	D	0.69479	0.964	T	0.02444	-1.1158	10	0.41790	T	0.15	-10.0478	16.7932	0.85595	0.0:0.1285:0.8715:0.0	.	365	Q7Z304	MAMC2_HUMAN	I	365	ENSP00000366387:V365I	ENSP00000366387:V365I	V	+	1	0	MAMDC2	71944979	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.247000	0.72411	2.865000	0.98341	0.655000	0.94253	GTA		0.458	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052600.1	NM_153267	
NXF3	56000	broad.mit.edu	37	X	102339283	102339283	+	Missense_Mutation	SNP	C	C	G			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:102339283C>G	ENST00000395065.3	-	3	439	c.338G>C	c.(337-339)tGg>tCg	p.W113S	NXF3_ENST00000425463.2_Missense_Mutation_p.W24S|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	113	RRM.				mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GATCTTGAACCAGCTCCCTAA	0.463																																						uc004eju.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(337-339)tGg>tCg		Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.							199.0	159.0	173.0					X																	102339283		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102339283C>G	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.338G>C	X.37:g.102339283C>G	ENSP00000378504:p.Trp113Ser					NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.W113S|NXF3_uc011mrx.1_Missense_Mutation_p.W24S	p.W113S	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN			2	409	-			113			RRM.		B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.338G>C	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	C	8.827	0.938868	0.18281	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.58652	0.32;0.32	3.69	2.79	0.32731	Nuclear RNA export factor Tap, RNA-binding domain (2);	0.317835	0.36854	N	0.002375	T	0.74680	0.3748	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75207	-0.3399	10	0.72032	D	0.01	-2.1082	7.401	0.26965	0.2584:0.7416:0.0:0.0	.	113;113	B4DYI1;Q9H4D5	.;NXF3_HUMAN	S	113;24	ENSP00000378504:W113S;ENSP00000404347:W24S	ENSP00000378504:W113S	W	-	2	0	NXF3	102225939	0.999000	0.42202	0.945000	0.38365	0.006000	0.05464	1.708000	0.37899	0.885000	0.36088	0.544000	0.68410	TGG		0.463	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052	
WDR44	54521	broad.mit.edu	37	X	117527112	117527112	+	Missense_Mutation	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:117527112G>A	ENST00000254029.3	+	4	1099	c.704G>A	c.(703-705)cGc>cAc	p.R235H	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.R235H|WDR44_ENST00000371822.5_Missense_Mutation_p.R210H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	235	Pro-rich.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GTTCCAGCACGCCCACCTCCT	0.522																																						uc004eqn.3																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(703-705)cGc>cAc		Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.							116.0	109.0	111.0					X																	117527112		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117527112G>A	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.704G>A	X.37:g.117527112G>A	ENSP00000254029:p.Arg235His					WDR44_uc004eqo.3_Missense_Mutation_p.R235H|WDR44_uc011mtr.2_Missense_Mutation_p.R210H|WDR44_uc010nqi.3_5'UTR	p.R235H	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			3	1135	+			235			Pro-rich.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.704G>A	CCDS14572.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.371043	0.82573	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.78364	-1.17;-0.55;-0.42	5.51	5.51	0.81932	.	0.057212	0.64402	D	0.000001	D	0.83308	0.5226	L	0.34521	1.04	0.52501	D	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.78314	0.991;0.988;0.964	D	0.84826	0.0799	10	0.59425	D	0.04	-13.3787	18.4598	0.90735	0.0:0.0:1.0:0.0	.	210;235;235	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	H	210;235;235	ENSP00000360887:R210H;ENSP00000254029:R235H;ENSP00000360890:R235H	ENSP00000254029:R235H	R	+	2	0	WDR44	117411140	1.000000	0.71417	0.997000	0.53966	0.513000	0.34164	9.414000	0.97362	2.301000	0.77427	0.600000	0.82982	CGC		0.522	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045	
STAG2	10735	broad.mit.edu	37	X	123176497	123176497	+	Splice_Site	SNP	T	T	C			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:123176497T>C	ENST00000371160.1	+	7	752		c.e7+2		STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000371145.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCGATGAGGTAACTTACTAC	0.333																																						uc004eua.3																			0				breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						c.e7+2		Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.							77.0	72.0	73.0					X																	123176497		2203	4300	6503	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123176497T>C	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.462+2T>C	X.37:g.123176497T>C						STAG2_uc004etz.4_Splice_Site_p.E154_splice|STAG2_uc004eub.3_Splice_Site_p.E154_splice|STAG2_uc004euc.3_Splice_Site_p.E154_splice|STAG2_uc004eud.3_Splice_Site_p.E154_splice|STAG2_uc004eue.3_Splice_Site_p.E154_splice	p.E154_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN			7	866	+			154					B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	ENST00000371160.1	37	c.462_splice	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	T	22.0	4.225276	0.79576	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0494	0.71854	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123004178	1.000000	0.71417	1.000000	0.80357	0.849000	0.48306	6.195000	0.72088	1.937000	0.56155	0.424000	0.28305	.		0.333	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	Intron
GPC4	2239	broad.mit.edu	37	X	132458560	132458560	+	Silent	SNP	G	G	A			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:132458560G>A	ENST00000370828.3	-	3	848	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPC4_ENST00000535467.1_Silent_p.F38F	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	108					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTTGAAGAATTCTGAAA	0.294																																						uc004exc.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28						c.(322-324)ttC>ttT		Homo sapiens glypican 4 (GPC4), mRNA.							75.0	81.0	79.0					X																	132458560		2200	4292	6492	SO:0001819	synonymous_variant	2239				anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding	g.chrX:132458560G>A	AF030186	CCDS14637.1	Xq26.1	2008-02-05			ENSG00000076716	ENSG00000076716		"""Proteoglycans / Cell Surface : Glypicans"""	4452	protein-coding gene	gene with protein product	"""glypican proteoglycan 4"""	300168				9787072	Standard	NM_001448		Approved	K-glypican	uc004exc.1	O75487	OTTHUMG00000022434	ENST00000370828.3:c.324C>T	X.37:g.132458560G>A						GPC4_uc011mvg.1_Silent_p.F38F	p.F108F	NM_001448	NP_001439	O75487	GPC4_HUMAN			2	536	-	Acute lymphoblastic leukemia(192;0.000127)		108					B2R6J7|B4E2C0|Q6ZMA6|Q96L43|Q9NU08|Q9UJN1|Q9UPD9	Silent	SNP	ENST00000370828.3	37	c.324C>T	CCDS14637.1																																																																																				0.294	GPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058338.1	NM_001448	
SPANXC	64663	broad.mit.edu	37	X	140335819	140335820	+	Frame_Shift_Ins	INS	-	-	T	rs57835830	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:140335819_140335820insT	ENST00000358993.2	-	2	162_163	c.124_125insA	c.(124-126)atgfs	p.M42fs		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	42						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M42L(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					AGATGTTTTCATTTTTTTAGGA	0.5																																						uc004fbk.3																			1	Substitution - Missense(1)	p.M42L(2)|p.M42I(1)	large_intestine(1)	large_intestine(2)|lung(3)|pancreas(1)	6						c.(124-126)atgfs		Homo sapiens SPANX family, member C (SPANXC), mRNA.																																				SO:0001589	frameshift_variant	64663					cytoplasm|nucleus		g.chrX:140335819_140335820insT	AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 3"""	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.125dupA	X.37:g.140335826_140335826dupT	ENSP00000351884:p.Met42fs					SPANXC_uc004fbl.3_Non-coding_Transcript	p.M42fs	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN			1	180_181	-	Acute lymphoblastic leukemia(192;7.65e-05)		42					Q32WL9|Q5JX88	Frame_Shift_Ins	INS	ENST00000358993.2	37	c.124_125insA	CCDS14673.1																																																																																				0.500	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058590.1	NM_022661	
WASH6P	653440	broad.mit.edu	37	X	155254706	155254706	+	RNA	SNP	C	C	T			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:155254706C>T	ENST00000461007.1	+	0	3622				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.T415M(2)									GTGAGAGCCACGAGCCAAGGT	0.637													c|||	392	0.0782748	0.0121	0.2233	5008	,	,		28320	0.0615		0.1352	False		,,,				2504	0.0235					uc022cip.1																			2	Substitution - Missense(2)	p.T415M(2)	kidney(2)								c.(601-603)aCg>aTg		RecName: Full=WAS protein family homolog 6; AltName: Full=Protein FAM39A;																																						653440							g.chrX:155254706C>T	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254706C>T							p.T201M							5	806	+								A6NGF1|Q8N305	Missense_Mutation	SNP	ENST00000461007.1	37	c.602C>T		.	.	.	.	.	.	.	.	.	.	c	13.63	2.293922	0.40594	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.155800	0.56097	N	0.000022	T	0.38983	0.1061	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.28586	-1.0039	6	0.62326	D	0.03	-19.9253	6.473	0.22020	0.0:0.9998:0.0:2.0E-4	.	.	.	.	M	415;384	.	ENSP00000285718:T384M	T	+	2	0	WASH6P	154907900	0.648000	0.27313	0.679000	0.29978	0.260000	0.26232	2.495000	0.45337	0.418000	0.25898	0.171000	0.16805	ACG		0.637	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380	
