#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_AAChange	i_ACHILLES_Lineage_Results_Top_Genes	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	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_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_Start_position_hg18	i_TranscriptID	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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
FBXO18	84893	broad.mit.edu	37	10	5951235	5951235	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr10:5951235C>T	ENST00000362091.4	+	5	1113	c.998C>T	c.(997-999)cCc>cTc	p.P333L	FBXO18_ENST00000379999.5_Missense_Mutation_p.P384L|FBXO18_ENST00000397269.3_5'UTR|FBXO18_ENST00000470089.1_3'UTR	NM_001258453.1|NM_178150.2	NP_001245382.1|NP_835363.1	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	333					DNA catabolic process, endonucleolytic (GO:0000737)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902231)|positive regulation of protein phosphorylation (GO:0001934)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)	p.P384L(1)		NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CAACACCTCCCCGACCTCTAC	0.602																																					p.P384L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1151T	10						.						53.0	50.0	51.0					10																	5951235		2203	4300	6503	5991241	SO:0001583	missense	84893	exon6			AK095343	CCDS7072.1, CCDS7073.1, CCDS73064.1	10p15.1	2004-08-24	2004-06-15		ENSG00000134452	ENSG00000134452		"""F-boxes /  ""other"""""	13620	protein-coding gene	gene with protein product		607222	"""F-box only protein 18"""			10531037, 11956208	Standard	NM_032807		Approved	FBH1, FLJ14590, Fbx18	uc001iit.4	Q8NFZ0	OTTHUMG00000017609	ENST00000362091.4:c.998C>T	10.37:g.5951235C>T	ENSP00000355415:p.Pro333Leu		5991241	NM_032807	Q5JVB0|Q5JVB1|Q7Z4Q6|Q7Z4R0|Q8N1P5|Q8N586|Q96E82|Q96K67|Q96SW7|Q9UFB2	Missense_Mutation	SNP	ENST00000362091.4	37	CCDS7072.1	.	.	.	.	.	.	.	.	.	.	C	11.05	1.526065	0.27299	.	.	ENSG00000134452	ENST00000362091;ENST00000544954;ENST00000379999;ENST00000379994	.	.	.	4.99	4.07	0.47477	.	0.111617	0.64402	D	0.000009	T	0.39436	0.1078	L	0.33485	1.01	0.80722	D	1	P;B;B	0.39404	0.672;0.293;0.293	B;B;B	0.34489	0.184;0.089;0.089	T	0.44065	-0.9352	9	0.52906	T	0.07	-14.0259	13.0507	0.58952	0.0:0.9161:0.0:0.0839	.	384;333;259	Q8NFZ0-2;Q8NFZ0;Q2TAK1	.;FBX18_HUMAN;.	L	333;70;384;70	.	ENSP00000355415:P333L	P	+	2	0	FBXO18	5991241	0.983000	0.35010	0.344000	0.25628	0.042000	0.13812	3.861000	0.56002	2.478000	0.83669	0.561000	0.74099	CCC		0.602	FBXO18-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046596.1	NM_032807	
CAMK1D	57118	broad.mit.edu	37	10	12866516	12866516	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr10:12866516C>G	ENST00000378847.3	+	9	1223	c.886C>G	c.(886-888)Cag>Gag	p.Q296E	CAMK1D_ENST00000378845.1_Missense_Mutation_p.Q296E	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	296	Autoinhibitory domain. {ECO:0000250}.				inflammatory response (GO:0006954)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of neuron projection development (GO:0010976)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis (GO:0050766)|positive regulation of respiratory burst (GO:0060267)|regulation of dendrite development (GO:0050773)|regulation of granulocyte chemotaxis (GO:0071622)	calcium- and calmodulin-dependent protein kinase complex (GO:0005954)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)	p.Q296E(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CGTCAGCGCCCAGATCCGGAA	0.522																																					p.Q296E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C886G	10						.						92.0	81.0	85.0					10																	12866516		2203	4300	6503	12906522	SO:0001583	missense	57118	exon9			AF286366	CCDS7091.1, CCDS7092.1	10p13	2003-11-05			ENSG00000183049	ENSG00000183049			19341	protein-coding gene	gene with protein product		607957				11050006	Standard	XM_006717481		Approved	CKLiK	uc001ilo.3	Q8IU85	OTTHUMG00000017683	ENST00000378847.3:c.886C>G	10.37:g.12866516C>G	ENSP00000368124:p.Gln296Glu		12906522	NM_020397	B0YIY0|Q9HD31	Missense_Mutation	SNP	ENST00000378847.3	37	CCDS7091.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.764790	0.90020	.	.	ENSG00000183049	ENST00000378847;ENST00000378845	T;T	0.38887	1.11;1.11	5.21	5.21	0.72293	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.60444	0.2269	M	0.80847	2.515	0.80722	D	1	D;D	0.54964	0.967;0.969	P;P	0.55345	0.774;0.661	T	0.59257	-0.7488	10	0.27785	T	0.31	-27.0793	18.1153	0.89552	0.0:1.0:0.0:0.0	.	296;296	Q8IU85;Q5SQQ7	KCC1D_HUMAN;.	E	296	ENSP00000368124:Q296E;ENSP00000368122:Q296E	ENSP00000368122:Q296E	Q	+	1	0	CAMK1D	12906522	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.447000	0.80620	2.590000	0.87494	0.561000	0.74099	CAG		0.522	CAMK1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046820.1	NM_020397	
FRMD4A	55691	broad.mit.edu	37	10	13699383	13699383	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr10:13699383G>A	ENST00000357447.2	-	22	2574	c.2206C>T	c.(2206-2208)Cgt>Tgt	p.R736C	FRMD4A_ENST00000378503.1_Missense_Mutation_p.R736C|FRMD4A_ENST00000358621.4_Missense_Mutation_p.R721C	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	736	Ser-rich.				establishment of epithelial cell polarity (GO:0090162)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)		p.R736C(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						TTGCTGCTACGAGTCCGCGGG	0.637																																					p.R736C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2206T	10						.						45.0	40.0	42.0					10																	13699383		2203	4300	6503	13739389	SO:0001583	missense	55691	exon22			AB037715	CCDS7101.1	10p14	2004-07-15	2004-07-15	2004-07-15	ENSG00000151474	ENSG00000151474			25491	protein-coding gene	gene with protein product			"""FERM domain containing 4"""	FRMD4		10718198	Standard	NM_018027		Approved	FLJ10210, KIAA1294, bA295P9.4	uc001ims.3	Q9P2Q2	OTTHUMG00000017708	ENST00000357447.2:c.2206C>T	10.37:g.13699383G>A	ENSP00000350032:p.Arg736Cys		13739389	NM_018027	A7E2Y3|Q5T377	Missense_Mutation	SNP	ENST00000357447.2	37	CCDS7101.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207632	0.79240	.	.	ENSG00000151474	ENST00000358621;ENST00000357447;ENST00000378503	D;D;D	0.85955	-2.04;-2.05;-2.05	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.85847	0.5792	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	P	0.50192	0.634	D	0.87916	0.2700	10	0.87932	D	0	-9.3448	18.5337	0.91001	0.0:0.0:1.0:0.0	.	736	Q9P2Q2	FRM4A_HUMAN	C	721;736;736	ENSP00000351438:R721C;ENSP00000350032:R736C;ENSP00000367764:R736C	ENSP00000350032:R736C	R	-	1	0	FRMD4A	13739389	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.126000	0.94411	2.353000	0.79882	0.436000	0.28706	CGT		0.637	FRMD4A-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000046889.1	NM_018027	
DRGX	644168	broad.mit.edu	37	10	50574324	50574324	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr10:50574324C>T	ENST00000374139.2	-	6	639	c.629G>A	c.(628-630)cGc>cAc	p.R210H	DRGX_ENST00000434016.1_Missense_Mutation_p.R215H			A6NNA5	DRGX_HUMAN	dorsal root ganglia homeobox	210					axon guidance (GO:0007411)|detection of chemical stimulus (GO:0009593)|detection of temperature stimulus (GO:0016048)|dorsal spinal cord development (GO:0021516)|neuron migration (GO:0001764)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of mechanical stimulus (GO:0050954)|transcription, DNA-templated (GO:0006351)|trigeminal nerve development (GO:0021559)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.R215H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GGCCTTCATGCGCAGGGTGGC	0.677																																					p.R215H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G644A	10						.						51.0	62.0	58.0					10																	50574324		2144	4232	6376	50244330	SO:0001583	missense	644168	exon6				CCDS44388.1, CCDS44388.2	10q11.23	2011-06-20	2007-07-26	2007-07-26	ENSG00000165606	ENSG00000165606		"""Homeoboxes / PRD class"""	21536	protein-coding gene	gene with protein product	"""paired-like homeodomain trancription factor DRG11"""	606701	"""paired related homeobox-like 1"""	PRRXL1		7496632	Standard	NM_001276451		Approved	DRG11	uc021pqd.2	A6NNA5	OTTHUMG00000018192	ENST00000374139.2:c.629G>A	10.37:g.50574324C>T	ENSP00000363254:p.Arg210His		50244330	NM_001080520		Missense_Mutation	SNP	ENST00000374139.2	37		.	.	.	.	.	.	.	.	.	.	C	27.9	4.876300	0.91664	.	.	ENSG00000165606	ENST00000374139;ENST00000434016	D;D	0.99985	-11.94;-11.94	5.54	4.62	0.57501	.	0.106857	0.64402	D	0.000006	D	0.99981	0.9994	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	D	0.89634	0.3857	10	0.87932	D	0	.	16.2906	0.82750	0.0:0.8674:0.1326:0.0	.	215	C9JW76	.	H	210;215	ENSP00000363254:R210H;ENSP00000401653:R215H	ENSP00000363254:R210H	R	-	2	0	DRGX	50244330	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.421000	0.80204	1.291000	0.44653	0.655000	0.94253	CGC		0.677	DRGX-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047987.2	XM_060970	
CTNNA3	29119	broad.mit.edu	37	10	67680312	67680312	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr10:67680312C>A	ENST00000433211.2	-	18	2638	c.2464G>T	c.(2464-2466)Gtg>Ttg	p.V822L	CTNNA3_ENST00000373735.1_5'UTR|CTNNA3_ENST00000373744.4_Missense_Mutation_p.V822L	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.V822L(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						GACATTTTCACTGTTTGCACT	0.448																																					p.V822L												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G2464T	10						.						91.0	83.0	86.0					10																	67680312		2203	4300	6503	67350318	SO:0001583	missense	29119	exon18			AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.2464G>T	10.37:g.67680312C>A	ENSP00000389714:p.Val822Leu		67350318	NM_013266		Missense_Mutation	SNP	ENST00000433211.2	37	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	C	34	5.382847	0.95967	.	.	ENSG00000183230	ENST00000433211;ENST00000373744;ENST00000373735	T;T;T	0.62498	0.02;0.02;0.02	5.88	5.88	0.94601	.	0.000000	0.53938	D	0.000053	T	0.81489	0.4833	M	0.86178	2.8	0.80722	D	1	D	0.63046	0.992	D	0.77004	0.989	T	0.80915	-0.1169	10	0.41790	T	0.15	-18.0205	17.795	0.88567	0.0:1.0:0.0:0.0	.	822	Q9UI47	CTNA3_HUMAN	L	822;822;161	ENSP00000389714:V822L;ENSP00000362849:V822L;ENSP00000362840:V161L	ENSP00000362840:V161L	V	-	1	0	CTNNA3	67350318	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.815000	0.86186	2.805000	0.96524	0.650000	0.86243	GTG		0.448	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266	
SLIT1	6585	broad.mit.edu	37	10	98762598	98762598	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr10:98762598G>A	ENST00000266058.4	-	35	4262	c.4017C>T	c.(4015-4017)tgC>tgT	p.C1339C	SLIT1_ENST00000371070.4_Silent_p.C1339C|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1339	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|dorsal/ventral axon guidance (GO:0033563)|establishment of nucleus localization (GO:0040023)|forebrain morphogenesis (GO:0048853)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of synapse assembly (GO:0051964)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord development (GO:0021510)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.C1339C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGCAGGGTTCGCAGCCTGGCA	0.632																																					p.C1339C												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C4017T	10						.						92.0	90.0	91.0					10																	98762598		2203	4300	6503	98752588	SO:0001819	synonymous_variant	6585	exon35			AB011537	CCDS7453.1	10q23.3-q24	2008-08-01	2001-11-28		ENSG00000187122	ENSG00000187122			11085	protein-coding gene	gene with protein product		603742	"""slit (Drosophila) homolog 1"""	SLIL1		9693030, 9813312	Standard	NM_003061		Approved	slit1, MEGF4, Slit-1, SLIT3	uc001kmw.2	O75093	OTTHUMG00000018843	ENST00000266058.4:c.4017C>T	10.37:g.98762598G>A			98752588	NM_003061	Q5T0V1|Q8WWZ2|Q9UIL7	Silent	SNP	ENST00000266058.4	37	CCDS7453.1																																																																																				0.632	SLIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049636.1	NM_003061	
TACC2	10579	broad.mit.edu	37	10	123970823	123970823	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr10:123970823G>A	ENST00000369005.1	+	9	7223	c.6883G>A	c.(6883-6885)Gcc>Acc	p.A2295T	TACC2_ENST00000515603.1_Missense_Mutation_p.A2250T|TACC2_ENST00000453444.2_Missense_Mutation_p.A2299T|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000360561.3_Missense_Mutation_p.A373T|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Missense_Mutation_p.A373T|TACC2_ENST00000515273.1_Missense_Mutation_p.A2299T|TACC2_ENST00000368999.1_Missense_Mutation_p.A373T|TACC2_ENST00000358010.1_Missense_Mutation_p.A441T|TACC2_ENST00000369004.3_Missense_Mutation_p.A373T|TACC2_ENST00000513429.1_Missense_Mutation_p.A441T|TACC2_ENST00000334433.3_Missense_Mutation_p.A2295T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2295					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)	p.A2295T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAAGCCAGTTGCCAAAATGCC	0.502																																					p.A373T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1117A	10						.						62.0	69.0	67.0					10																	123970823		2203	4300	6503	123960813	SO:0001583	missense	10579	exon3			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6883G>A	10.37:g.123970823G>A	ENSP00000358001:p.Ala2295Thr		123960813	NM_006997	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	ENST00000369005.1	37	CCDS7626.1	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833936	0.71373	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539;ENST00000496913	T;T;T;T;T;T;T;T;T;T;T;T;T	0.15487	3.94;3.52;3.98;3.97;3.94;3.52;3.98;3.39;3.41;3.4;3.4;3.0;2.42	5.12	4.22	0.49857	.	0.215967	0.23732	N	0.045119	T	0.38374	0.1038	M	0.73962	2.25	0.38925	D	0.957821	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.83275	0.992;0.996;0.995;0.996;0.996;0.988;0.988;0.988;0.996	T	0.34850	-0.9812	10	0.14252	T	0.57	-5.8621	13.8188	0.63308	0.0743:0.0:0.9257:0.0	.	390;2299;373;2250;2299;373;373;441;2295	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;B7ZMJ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;.;TACC2_HUMAN	T	2295;441;2299;2250;2295;441;2299;2285;373;373;373;373;390;34	ENSP00000358001:A2295T;ENSP00000425062:A441T;ENSP00000424467:A2299T;ENSP00000427618:A2250T;ENSP00000334280:A2295T;ENSP00000350701:A441T;ENSP00000395048:A2299T;ENSP00000353763:A373T;ENSP00000357995:A373T;ENSP00000422815:A373T;ENSP00000260733:A373T;ENSP00000420967:A390T;ENSP00000422725:A34T	ENSP00000260733:A373T	A	+	1	0	TACC2	123960813	1.000000	0.71417	0.841000	0.33234	0.938000	0.57974	5.603000	0.67619	1.294000	0.44707	0.555000	0.69702	GCC		0.502	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1		
OR8B4	283162	broad.mit.edu	37	11	124293907	124293907	+	Silent	SNP	C	C	A	rs562146843	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr11:124293907C>A	ENST00000356130.3	-	1	882	c.861G>T	c.(859-861)tcG>tcT	p.S287S		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	287						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S287S(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AACTGTAGATCGAAGGGTTAA	0.443																																					p.S287S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G861T	11						.						90.0	89.0	89.0					11																	124293907		2201	4299	6500	123799117	SO:0001819	synonymous_variant	283162	exon1			AB065831	CCDS31710.1	11q24	2012-08-09		2001-06-29	ENSG00000198657	ENSG00000198657		"""GPCR / Class A : Olfactory receptors"""	8473	protein-coding gene	gene with protein product				OR8B4P			Standard	NM_001005196		Approved		uc010sak.2	Q96RC9	OTTHUMG00000165916	ENST00000356130.3:c.861G>T	11.37:g.124293907C>A			123799117	NM_001005196	B2RNF8|Q6IFQ7	Silent	SNP	ENST00000356130.3	37	CCDS31710.1																																																																																				0.443	OR8B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387055.1	NM_001005196	
CHST1	8534	broad.mit.edu	37	11	45671652	45671652	+	Silent	SNP	C	C	T	rs369014915		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr11:45671652C>T	ENST00000308064.2	-	4	1492	c.822G>A	c.(820-822)acG>acA	p.T274T	CHST1_ENST00000533673.1_5'Flank|RP11-495O11.1_ENST00000525563.1_RNA	NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	274					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)|glycosaminoglycan metabolic process (GO:0030203)|inflammatory response (GO:0006954)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|polysaccharide metabolic process (GO:0005976)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	keratan sulfotransferase activity (GO:0045130)|sulfotransferase activity (GO:0008146)	p.T274T(2)		breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		CCTCGCACACCGTGGTCAGCT	0.652																																					p.T274T												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.G822A	11						.	C		1,4405	2.1+/-5.4	0,1,2202	93.0	76.0	82.0		822	-9.8	0.7	11		82	0,8598		0,0,4299	no	coding-synonymous	CHST1	NM_003654.5		0,1,6501	TT,TC,CC		0.0,0.0227,0.0077		274/412	45671652	1,13003	2203	4299	6502	45628228	SO:0001819	synonymous_variant	8534	exon4			U65637	CCDS7913.1	11p11.2	2010-04-29			ENSG00000175264	ENSG00000175264		"""Sulfotransferases, membrane-bound"""	1969	protein-coding gene	gene with protein product		603797				9405439, 9639683	Standard	NM_003654		Approved	C6ST, KSGal6ST	uc001mys.2	O43916		ENST00000308064.2:c.822G>A	11.37:g.45671652C>T			45628228	NM_003654	D3DQP2	Silent	SNP	ENST00000308064.2	37	CCDS7913.1																																																																																				0.652	CHST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390127.1	NM_003654	
OR4A15	81328	broad.mit.edu	37	11	55135398	55135398	+	Missense_Mutation	SNP	C	C	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr11:55135398C>A	ENST00000314706.3	+	1	39	c.39C>A	c.(37-39)gaC>gaA	p.D13E		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	13						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.D13D(1)|p.D13E(1)		NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTATCACTGACCCTTTTGTTT	0.433																																					p.D13E												.	.	2	Substitution - Missense(1)|Substitution - coding silent(1)	large_intestine(1)|prostate(1)	c.C39A	11						.						56.0	50.0	52.0					11																	55135398		2201	4293	6494	54891974	SO:0001583	missense	81328	exon1			AB065776	CCDS31500.1	11q11	2012-08-09			ENSG00000181958	ENSG00000181958		"""GPCR / Class A : Olfactory receptors"""	15152	protein-coding gene	gene with protein product							Standard	NM_001005275		Approved		uc010rif.2	Q8NGL6	OTTHUMG00000166711	ENST00000314706.3:c.39C>A	11.37:g.55135398C>A	ENSP00000325065:p.Asp13Glu		54891974	NM_001005275	Q6IFL4|Q96R65	Missense_Mutation	SNP	ENST00000314706.3	37	CCDS31500.1	.	.	.	.	.	.	.	.	.	.	c	4.304	0.055731	0.08291	.	.	ENSG00000181958	ENST00000314706	T	0.16597	2.33	2.54	0.535	0.17133	.	.	.	.	.	T	0.07324	0.0185	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.04013	0.001	T	0.37244	-0.9714	9	0.30854	T	0.27	.	4.728	0.12950	0.0:0.6658:0.0:0.3342	.	13	Q8NGL6	O4A15_HUMAN	E	13	ENSP00000325065:D13E	ENSP00000325065:D13E	D	+	3	2	OR4A15	54891974	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	-0.150000	0.10189	0.009000	0.14813	0.492000	0.49549	GAC		0.433	OR4A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391161.1	NM_001005275	
TRIM51	84767	broad.mit.edu	37	11	55655610	55655610	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr11:55655610G>A	ENST00000449290.2	+	4	702	c.610G>A	c.(610-612)Gag>Aag	p.E204K	TRIM51_ENST00000244891.3_Missense_Mutation_p.E61K	NM_032681.3	NP_116070.2	Q9BSJ1	TRI51_HUMAN	tripartite motif-containing 51	204						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.E204K(1)|p.E45K(1)									GCTGCGAAAGGAGGGCGAGGA	0.423																																					p.E204K												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G610A	11						.						62.0	59.0	60.0					11																	55655610		2201	4296	6497	55412186	SO:0001583	missense	84767	exon4			BC005014		11p11	2013-01-09	2012-05-18	2012-05-18	ENSG00000124900	ENSG00000124900		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19023	protein-coding gene	gene with protein product			"""SPRY domain containing 5"""	SPRYD5			Standard	NM_032681		Approved	TRIM51A	uc010rip.2	Q9BSJ1	OTTHUMG00000156437	ENST00000449290.2:c.610G>A	11.37:g.55655610G>A	ENSP00000395086:p.Glu204Lys		55412186	NM_032681	A6NMG2	Missense_Mutation	SNP	ENST00000449290.2	37		.	.	.	.	.	.	.	.	.	.	.	4.577	0.107213	0.08780	.	.	ENSG00000124900	ENST00000449290;ENST00000244891	T;T	0.09723	2.95;2.95	0.757	0.757	0.18427	.	.	.	.	.	T	0.06781	0.0173	N	0.25144	0.715	0.09310	N	1	B	0.22851	0.076	B	0.23852	0.049	T	0.36383	-0.9750	9	0.41790	T	0.15	.	4.8849	0.13697	0.0:0.0:1.0:0.0	.	204	Q9BSJ1	SPRY5_HUMAN	K	204;61	ENSP00000395086:E204K;ENSP00000244891:E61K	ENSP00000244891:E61K	E	+	1	0	SPRYD5	55412186	0.008000	0.16893	0.003000	0.11579	0.414000	0.31173	0.038000	0.13862	0.714000	0.32081	0.152000	0.16155	GAG		0.423	TRIM51-004	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000391522.1	NM_032681	
ROBO4	54538	broad.mit.edu	37	11	124764172	124764172	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr11:124764172A>C	ENST00000306534.3	-	8	1728	c.1243T>G	c.(1243-1245)Tcc>Gcc	p.S415A	ROBO4_ENST00000533054.1_Missense_Mutation_p.S270A|ROBO4_ENST00000526899.1_5'Flank	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	415	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.S415A(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACGCAGTAGGAGCCTGGCATA	0.607																																					p.S415A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T1243G	11						.						105.0	83.0	91.0					11																	124764172		2201	4299	6500	124269382	SO:0001583	missense	54538	exon8			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.1243T>G	11.37:g.124764172A>C	ENSP00000304945:p.Ser415Ala		124269382	NM_019055	A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	ENST00000306534.3	37	CCDS8455.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.779377	0.49891	.	.	ENSG00000154133	ENST00000306534;ENST00000374963;ENST00000533054	T;T	0.56941	0.43;0.43	4.93	4.93	0.64822	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.227101	0.22905	N	0.054205	T	0.51058	0.1652	L	0.37630	1.12	0.28306	N	0.92291	P;P	0.52577	0.852;0.954	B;P	0.52554	0.359;0.702	T	0.43893	-0.9363	10	0.25751	T	0.34	.	10.9978	0.47587	1.0:0.0:0.0:0.0	.	305;415	Q8WZ75-3;Q8WZ75	.;ROBO4_HUMAN	A	415;305;270	ENSP00000304945:S415A;ENSP00000437129:S270A	ENSP00000304945:S415A	S	-	1	0	ROBO4	124269382	0.999000	0.42202	0.999000	0.59377	0.848000	0.48234	1.518000	0.35877	1.851000	0.53745	0.533000	0.62120	TCC		0.607	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387111.1	NM_019055	
RDH5	5959	broad.mit.edu	37	12	56117811	56117812	+	Frame_Shift_Ins	INS	-	-	G	rs62638191|rs199865350	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr12:56117811_56117812insG	ENST00000257895.5	+	4	863_864	c.711_712insG	c.(712-714)gggfs	p.G238fs	RDH5_ENST00000547072.1_Frame_Shift_Ins_p.G141fs|RDH5_ENST00000548082.1_Frame_Shift_Ins_p.G238fs|RP11-644F5.10_ENST00000550412.1_3'UTR	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	238			G -> W (in RPA; decreased stability; loss of enzymatic activity; accumulates in the perinuclear region; dbSNP:rs62638191). {ECO:0000269|PubMed:10369264, ECO:0000269|PubMed:10617778}.		phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	retinol dehydrogenase activity (GO:0004745)	p.A240fs*19(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					Vitamin A(DB00162)	AGGCCCACTATGGGGGGGCCTT	0.604																																					p.Y237fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.711_712insG	12	GRCh37	CM991095	RDH5	M	rs62638191	.																																			54404079	SO:0001589	frameshift_variant	5959	exon4			U89717	CCDS31829.1	12q13-q14	2013-06-03	2006-05-09			ENSG00000135437	1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	9940	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 9C, member 5"""	601617	"""retinol dehydrogenase 5 (11-cis and 9-cis)"""	RDH1		9115228, 8884265, 19027726	Standard	NM_002905		Approved	HSD17B9, SDR9C5	uc001shl.3	Q92781	OTTHUMG00000170126	ENST00000257895.5:c.718dupG	12.37:g.56117818_56117818dupG	ENSP00000257895:p.Gly238fs		54404078	NM_002905	O00179|Q8TAI2	Frame_Shift_Ins	INS	ENST00000257895.5	37	CCDS31829.1																																																																																				0.604	RDH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407493.1	NM_002905	
EP400	57634	broad.mit.edu	37	12	132471096	132471096	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr12:132471096C>T	ENST00000333577.4	+	7	2184	c.2075C>T	c.(2074-2076)cCg>cTg	p.P692L	EP400_ENST00000332482.4_Missense_Mutation_p.P619L|EP400_ENST00000389562.2_Missense_Mutation_p.P655L|EP400_ENST00000330386.6_Missense_Mutation_p.P656L|EP400_ENST00000389561.2_Missense_Mutation_p.P656L			Q96L91	EP400_HUMAN	E1A binding protein p400	692					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.P655L(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GACCCTGCCCCGCCCTGCCCA	0.642																																					p.P655L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1964T	12						.						74.0	70.0	71.0					12																	132471096		2203	4300	6503	131037049	SO:0001583	missense	57634	exon6			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.2075C>T	12.37:g.132471096C>T	ENSP00000333602:p.Pro692Leu		131037049	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	C	5.880	0.346551	0.11126	.	.	ENSG00000183495	ENST00000537902;ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000423130;ENST00000541296;ENST00000542457	D;D;D;D;D	0.90197	-2.6;-2.63;-2.62;-2.6;-2.62	5.49	1.59	0.23543	.	0.208186	0.42172	D	0.000748	T	0.80215	0.4582	L	0.27053	0.805	0.28539	N	0.912219	P;P;P;P;P	0.44946	0.846;0.846;0.846;0.562;0.846	B;B;B;B;B	0.30855	0.084;0.084;0.084;0.121;0.084	T	0.73183	-0.4063	10	0.41790	T	0.15	.	13.2851	0.60239	0.5819:0.4181:0.0:0.0	.	656;656;655;692;619	Q96L91-2;Q96L91-4;Q96L91-5;F8WCN8;Q96L91-3	.;.;.;.;.	L	619;692;656;655;619;656;692;656;656	ENSP00000333602:P692L;ENSP00000374212:P656L;ENSP00000374213:P655L;ENSP00000331737:P619L;ENSP00000330620:P656L	ENSP00000330620:P656L	P	+	2	0	EP400	131037049	1.000000	0.71417	0.261000	0.24466	0.081000	0.17604	3.658000	0.54482	0.362000	0.24319	0.467000	0.42956	CCG		0.642	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
DENND5B	160518	broad.mit.edu	37	12	31566463	31566463	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr12:31566463A>G	ENST00000389082.5	-	13	2852	c.2588T>C	c.(2587-2589)gTt>gCt	p.V863A	DENND5B_ENST00000536562.1_Missense_Mutation_p.V898A|DENND5B_ENST00000306833.6_Missense_Mutation_p.V898A	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	863	RUN 1. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.V863A(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGCTCGTCCAACATCAGTCTT	0.408																																					p.V863A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T2588C	12						.						109.0	101.0	104.0					12																	31566463		1895	4122	6017	31457730	SO:0001583	missense	160518	exon13			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2588T>C	12.37:g.31566463A>G	ENSP00000373734:p.Val863Ala		31457730	NM_144973	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.530848	0.85706	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.29917	1.55;1.55;1.55	4.74	4.74	0.60224	RUN (2);	0.000000	0.64402	D	0.000003	T	0.55970	0.1954	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74348	0.983;0.971	T	0.62511	-0.6839	10	0.87932	D	0	-5.4432	14.405	0.67075	1.0:0.0:0.0:0.0	.	863;898	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	A	863;898;898	ENSP00000373734:V863A;ENSP00000306482:V898A;ENSP00000444889:V898A	ENSP00000306482:V898A	V	-	2	0	DENND5B	31457730	1.000000	0.71417	0.830000	0.32933	0.995000	0.86356	8.829000	0.92055	1.997000	0.58415	0.533000	0.62120	GTT		0.408	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973	
KRT4	3851	broad.mit.edu	37	12	53202524	53202524	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr12:53202524G>A	ENST00000551956.1	-	5	1437	c.945C>T	c.(943-945)taC>taT	p.Y315Y	KRT4_ENST00000293774.4_Silent_p.Y389Y|KRT4_ENST00000458244.2_Silent_p.Y295Y			P19013	K2C4_HUMAN	keratin 4	329	Linker 12.|Rod.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.Y389Y(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CAATCTCCTCGTACTGGGCAC	0.592																																					p.Y389Y	Pancreas(190;284 2995 41444 45903)											.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1167T	12						.						102.0	93.0	96.0					12																	53202524		2203	4300	6503	51488791	SO:0001819	synonymous_variant	3851	exon5				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.945C>T	12.37:g.53202524G>A			51488791	NM_002272	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	CCDS41787.2																																																																																				0.592	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
HOXC10	3226	broad.mit.edu	37	12	54379511	54379511	+	Silent	SNP	C	C	T	rs535670613	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr12:54379511C>T	ENST00000303460.4	+	1	542	c.468C>T	c.(466-468)tcC>tcT	p.S156S	HOXC-AS3_ENST00000567780.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|RP11-834C11.12_ENST00000513209.1_5'Flank|HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000514702.1_RNA	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	156					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.S156S(1)		endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						CGAGCTACTCCGCGCTGGACA	0.672													C|||	2	0.000399361	0.0	0.0	5008	,	,		15934	0.0		0.0	False		,,,				2504	0.002				p.S156S												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C468T	12						.						29.0	30.0	30.0					12																	54379511		2203	4300	6503	52665778	SO:0001819	synonymous_variant	3226	exon1				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.468C>T	12.37:g.54379511C>T			52665778	NM_017409	O15219|O15220|Q9BVD5	Silent	SNP	ENST00000303460.4	37	CCDS8868.1																																																																																				0.672	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358952.2		
MIP	4284	broad.mit.edu	37	12	56847476	56847476	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr12:56847476C>T	ENST00000257979.4	-	2	452	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	MIP_ENST00000555551.1_5'UTR	NM_012064.3	NP_036196.1	P30301	MIP_HUMAN	major intrinsic protein of lens fiber	142					canalicular bile acid transport (GO:0015722)|lens development in camera-type eye (GO:0002088)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)|water transport (GO:0006833)	gap junction (GO:0005921)|integral component of plasma membrane (GO:0005887)|intracellular canaliculus (GO:0046691)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|structural constituent of eye lens (GO:0005212)|transporter activity (GO:0005215)|water channel activity (GO:0015250)	p.V142M(1)		kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	16						ATGCAGAGCACGAACTGGAGC	0.607																																					p.V142M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G424A	12						.						69.0	51.0	57.0					12																	56847476		2203	4300	6503	55133743	SO:0001583	missense	4284	exon2				CCDS8919.1	12q13	2012-10-02				ENSG00000135517		"""Ion channels / Aquaporins"""	7103	protein-coding gene	gene with protein product	aquaporin 0	154050				1840563, 7536742	Standard	NM_012064		Approved	MP26, LIM1, AQP0	uc001slh.3	P30301		ENST00000257979.4:c.424G>A	12.37:g.56847476C>T	ENSP00000257979:p.Val142Met		55133743	NM_012064	Q17R41	Missense_Mutation	SNP	ENST00000257979.4	37	CCDS8919.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.015873	0.93404	.	.	ENSG00000135517	ENST00000257979	D	0.86627	-2.15	4.86	4.86	0.63082	Aquaporin-like (2);	0.000000	0.85682	D	0.000000	D	0.91331	0.7266	L	0.47190	1.495	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92348	0.5887	10	0.87932	D	0	-10.0491	17.145	0.86764	0.0:1.0:0.0:0.0	.	142	P30301	MIP_HUMAN	M	142	ENSP00000257979:V142M	ENSP00000257979:V142M	V	-	1	0	MIP	55133743	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.487000	0.81328	2.399000	0.81585	0.655000	0.94253	GTG		0.607	MIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409620.1	NM_012064	
EP400	57634	broad.mit.edu	37	12	132498153	132498153	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr12:132498153G>A	ENST00000333577.4	+	19	3947	c.3838G>A	c.(3838-3840)Gcc>Acc	p.A1280T	EP400_ENST00000332482.4_Missense_Mutation_p.A1207T|EP400_ENST00000389562.2_Missense_Mutation_p.A1243T|EP400_ENST00000330386.6_Missense_Mutation_p.A1244T|EP400_ENST00000389561.2_Missense_Mutation_p.A1244T			Q96L91	EP400_HUMAN	E1A binding protein p400	1280	Interactions with RUVBL1 and RUVBL2.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.A1243T(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CCCTCTGAGGGCCCCCAGTGA	0.527																																					p.A1243T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G3727A	12						.						64.0	63.0	63.0					12																	132498153		2203	4300	6503	131064106	SO:0001583	missense	57634	exon18			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.3838G>A	12.37:g.132498153G>A	ENSP00000333602:p.Ala1280Thr		131064106	NM_015409	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Missense_Mutation	SNP	ENST00000333577.4	37		.	.	.	.	.	.	.	.	.	.	G	6.322	0.427444	0.11987	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296;ENST00000542457	D;D;D;D;D	0.92858	-3.12;-3.12;-3.12;-3.12;-3.12	5.2	1.96	0.26148	.	0.437579	0.26514	N	0.023943	D	0.84238	0.5428	N	0.20401	0.57	0.22693	N	0.998846	B;B;B	0.15930	0.015;0.015;0.015	B;B;B	0.13407	0.009;0.009;0.009	T	0.75139	-0.3423	10	0.54805	T	0.06	.	10.7214	0.46042	0.0762:0.2639:0.6599:0.0	.	1244;1244;1243	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	T	1280;1244;1243;1207;1244;1244;1244	ENSP00000333602:A1280T;ENSP00000374212:A1244T;ENSP00000374213:A1243T;ENSP00000331737:A1207T;ENSP00000330620:A1244T	ENSP00000330620:A1244T	A	+	1	0	EP400	131064106	0.998000	0.40836	0.006000	0.13384	0.013000	0.08279	2.480000	0.45206	0.519000	0.28406	0.643000	0.83706	GCC		0.527	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
PCDH20	64881	broad.mit.edu	37	13	61986793	61986793	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr13:61986793T>C	ENST00000409186.1	-	5	3544	c.1439A>G	c.(1438-1440)tAc>tGc	p.Y480C	PCDH20_ENST00000409204.4_Missense_Mutation_p.Y480C			Q8N6Y1	PCD20_HUMAN	protocadherin 20	480	Cadherin 3. {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)|poly(A) RNA binding (GO:0044822)	p.Y453C(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTATGGTTTGTAAGGTGATAA	0.413																																					p.Y480C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1439G	13						.						113.0	112.0	112.0					13																	61986793		2203	4300	6503	60884794	SO:0001583	missense	64881	exon2			AF169693	CCDS9442.2	13q21	2010-01-26			ENSG00000197991	ENSG00000197991		"""Cadherins / Protocadherins : Non-clustered"""	14257	protein-coding gene	gene with protein product		614449					Standard	NM_022843		Approved	PCDH13, FLJ22218	uc001vid.4	Q8N6Y1	OTTHUMG00000017012	ENST00000409186.1:c.1439A>G	13.37:g.61986793T>C	ENSP00000386653:p.Tyr480Cys		60884794	NM_022843	A8K1K9|B1AQU2|Q8NDN4|Q9NRT9	Missense_Mutation	SNP	ENST00000409186.1	37	CCDS9442.2	.	.	.	.	.	.	.	.	.	.	T	14.29	2.491990	0.44352	.	.	ENSG00000197991	ENST00000409204;ENST00000409186;ENST00000358674	T;T	0.60920	0.15;0.15	5.9	5.9	0.94986	.	0.000000	0.56097	D	0.000025	T	0.66597	0.2805	L	0.57536	1.79	0.54753	D	0.999986	D	0.69078	0.997	P	0.57283	0.817	T	0.69457	-0.5140	10	0.62326	D	0.03	.	11.4152	0.49947	0.1347:0.0:0.0:0.8653	.	480	A8K1K9	.	C	480;480;226	ENSP00000387250:Y480C;ENSP00000386653:Y480C	ENSP00000351500:Y226C	Y	-	2	0	PCDH20	60884794	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	6.103000	0.71492	2.266000	0.75297	0.528000	0.53228	TAC		0.413	PCDH20-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333054.2	NM_022843	
SLITRK1	114798	broad.mit.edu	37	13	84454666	84454666	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr13:84454666G>A	ENST00000377084.2	-	1	1862	c.977C>T	c.(976-978)gCg>gTg	p.A326V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	326					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.A326V(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCTACCCGTCGCTATCGCTGC	0.552																																					p.A326V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C977T	13						.						77.0	76.0	76.0					13																	84454666		2203	4300	6503	83352667	SO:0001583	missense	114798	exon1			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.977C>T	13.37:g.84454666G>A	ENSP00000366288:p.Ala326Val		83352667	NM_052910	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	G	6.876	0.531046	0.13127	.	.	ENSG00000178235	ENST00000377084	T	0.58210	0.35	4.85	4.0	0.46444	.	0.191486	0.47455	D	0.000232	T	0.31949	0.0813	N	0.12961	0.28	0.34990	D	0.754884	B	0.15719	0.014	B	0.17433	0.018	T	0.30268	-0.9984	10	0.09084	T	0.74	-4.5496	12.2747	0.54728	0.0:0.1712:0.8288:0.0	.	326	Q96PX8	SLIK1_HUMAN	V	326	ENSP00000366288:A326V	ENSP00000366288:A326V	A	-	2	0	SLITRK1	83352667	1.000000	0.71417	0.864000	0.33941	0.982000	0.71751	4.888000	0.63164	1.258000	0.44101	0.555000	0.69702	GCG		0.552	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
DOCK9	23348	broad.mit.edu	37	13	99520580	99520580	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr13:99520580C>T	ENST00000376460.1	-	28	3075	c.2995G>A	c.(2995-2997)Gtt>Att	p.V999I	DOCK9_ENST00000442173.1_Missense_Mutation_p.V999I|DOCK9_ENST00000448493.2_Missense_Mutation_p.V1011I|DOCK9_ENST00000339416.2_Missense_Mutation_p.V1000I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1000					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)	p.V1000I(1)		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)					ATATTTACAACGGTTTCCACT	0.398																																					p.V999I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2995A	13						.						86.0	80.0	82.0					13																	99520580		1907	4145	6052	98318581	SO:0001583	missense	23348	exon28			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.2995G>A	13.37:g.99520580C>T	ENSP00000365643:p.Val999Ile		98318581	NM_001130050	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	ENST00000376460.1	37	CCDS45062.1	.	.	.	.	.	.	.	.	.	.	C	19.73	3.881986	0.72294	.	.	ENSG00000088387	ENST00000376460;ENST00000357329;ENST00000376455;ENST00000400235;ENST00000428223;ENST00000339416;ENST00000448493;ENST00000442173	T;T;T;T	0.66460	-0.21;-0.21;1.84;1.84	5.97	5.97	0.96955	.	0.063983	0.64402	D	0.000004	T	0.42607	0.1210	N	0.02539	-0.55	0.43965	D	0.996647	B;B;B;B;B	0.33238	0.244;0.403;0.122;0.172;0.403	B;B;B;B;B	0.29267	0.047;0.1;0.028;0.029;0.1	T	0.53837	-0.8382	10	0.72032	D	0.01	-20.4825	15.1788	0.72938	0.1409:0.859:0.0:0.0	.	1000;999;999;999;1000	A6H8Z6;E9PFM9;B3KX25;Q9BZ29-5;Q9BZ29	.;.;.;.;DOCK9_HUMAN	I	999;1000;1000;1000;999;1000;1011;999	ENSP00000365643:V999I;ENSP00000341086:V1000I;ENSP00000401958:V1011I;ENSP00000406883:V999I	ENSP00000341086:V1000I	V	-	1	0	DOCK9	98318581	0.970000	0.33590	0.988000	0.46212	0.982000	0.71751	2.058000	0.41374	2.837000	0.97791	0.655000	0.94253	GTT		0.398	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045566.1	NM_015296	
ERCC5	2073	broad.mit.edu	37	13	103518111	103518111	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr13:103518111G>A	ENST00000355739.4	+	9	3472	c.2049G>A	c.(2047-2049)gaG>gaA	p.E683E	BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.G1109R|ERCC5_ENST00000375954.1_5'UTR	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	683					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)	p.E683E(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AAGGCGAAGAGGAACTGGTAG	0.517			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																												p.E683E		yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2049A	13						.						47.0	43.0	45.0					13																	103518111		2203	4300	6503	102316112	SO:0001819	synonymous_variant	2073	exon9	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.2049G>A	13.37:g.103518111G>A			102316112	NM_000123	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Silent	SNP	ENST00000355739.4	37	CCDS32004.1																																																																																				0.517	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045708.1		
C14orf182	283551	broad.mit.edu	37	14	50472373	50472373	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr14:50472373G>A	ENST00000399206.1	-	1	1865	c.145C>T	c.(145-147)Cga>Tga	p.R49*	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	49								p.R49*(1)		large_intestine(2)|urinary_tract(1)	3						TGTCTGTGTCGTAGAACTGTG	0.527																																					p.R49X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C145T	14						.						226.0	246.0	239.0					14																	50472373		2051	4191	6242	49542123	SO:0001587	stop_gained	283551	exon1			AK090420	CCDS41949.1	14q22.1	2009-02-24			ENSG00000214900	ENSG00000214900			27503	protein-coding gene	gene with protein product							Standard	NM_001012706		Approved		uc001wxi.1	A1A4T8		ENST00000399206.1:c.145C>T	14.37:g.50472373G>A	ENSP00000382157:p.Arg49*		49542123	NM_001012706	A8MYX4	Nonsense_Mutation	SNP	ENST00000399206.1	37	CCDS41949.1	.	.	.	.	.	.	.	.	.	.	G	48	14.477015	0.99797	.	.	ENSG00000214900	ENST00000399206	.	.	.	3.26	-5.12	0.02893	.	.	.	.	.	.	.	.	.	.	.	0.52501	A	0.999951	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9637	0.05901	0.1373:0.1469:0.5123:0.2035	.	.	.	.	X	49	.	ENSP00000382157:R49X	R	-	1	2	C14orf182	49542123	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.673000	0.01951	-1.031000	0.03308	-0.234000	0.12200	CGA		0.527	C14orf182-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395717.1	NM_001012706	
DLK1	8788	broad.mit.edu	37	14	101200619	101200619	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr14:101200619G>A	ENST00000341267.4	+	5	780	c.538G>A	c.(538-540)Gag>Aag	p.E180K	DLK1_ENST00000331224.6_Missense_Mutation_p.E180K	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	180	EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.E180K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CAACCCATGCGAGAACGACGG	0.662																																					p.E180K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G538A	14						.						70.0	73.0	72.0					14																	101200619		2203	4300	6503	100270372	SO:0001583	missense	8788	exon5			U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.538G>A	14.37:g.101200619G>A	ENSP00000340292:p.Glu180Lys		100270372	NM_003836	P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902057	0.33628	.	.	ENSG00000185559	ENST00000341267;ENST00000331224	T;T	0.65916	-0.18;-0.18	4.58	4.58	0.56647	EGF (1);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.285122	0.31301	N	0.007893	T	0.53126	0.1777	N	0.04275	-0.24	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.50533	-0.8817	10	0.09590	T	0.72	.	10.0959	0.42475	0.0927:0.0:0.9073:0.0	.	180;180	P80370-2;P80370	.;DLK1_HUMAN	K	180	ENSP00000340292:E180K;ENSP00000331081:E180K	ENSP00000331081:E180K	E	+	1	0	DLK1	100270372	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	3.513000	0.53414	2.086000	0.62901	0.491000	0.48974	GAG		0.662	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1		
RYR3	6263	broad.mit.edu	37	15	34014966	34014966	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr15:34014966C>T	ENST00000389232.4	+	44	6740	c.6670C>T	c.(6670-6672)Cgc>Tgc	p.R2224C	RYR3_ENST00000415757.3_Missense_Mutation_p.R2224C|Y_RNA_ENST00000363138.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2224	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.R2224C(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTCATCAGACGCCCAGAGTG	0.582																																					p.R2224C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C6670T	15						.						93.0	102.0	100.0					15																	34014966		2013	4187	6200	31802258	SO:0001583	missense	6263	exon44				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6670C>T	15.37:g.34014966C>T	ENSP00000373884:p.Arg2224Cys		31802258	NM_001036	O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	34	5.311308	0.95655	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95690	-3.78;-3.78	4.93	4.93	0.64822	Intracellular calcium-release channel (1);	0.000000	0.85682	D	0.000000	D	0.97536	0.9193	M	0.75777	2.31	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.985;1.0	D	0.98225	1.0480	10	0.87932	D	0	.	18.336	0.90288	0.0:1.0:0.0:0.0	.	2224;2224	Q15413-2;Q15413	.;RYR3_HUMAN	C	2224	ENSP00000373884:R2224C;ENSP00000399610:R2224C	ENSP00000354735:R2224C	R	+	1	0	RYR3	31802258	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.609000	0.82925	2.553000	0.86117	0.555000	0.69702	CGC		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		
MAPKBP1	23005	broad.mit.edu	37	15	42103096	42103096	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr15:42103096G>A	ENST00000456763.2	+	4	418	c.222G>A	c.(220-222)ttG>ttA	p.L74L	MAPKBP1_ENST00000457542.2_Silent_p.L74L|MAPKBP1_ENST00000221214.6_Silent_p.L74L|MAPKBP1_ENST00000260357.7_5'UTR|MAPKBP1_ENST00000514566.1_Silent_p.L74L|MAPKBP1_ENST00000507762.1_3'UTR	NM_001128608.1	NP_001122080.1	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	74								p.L74L(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGGTTGTGTTGTTCAATCCCC	0.557																																					p.L74L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G222A	15						.						174.0	159.0	164.0					15																	42103096		2203	4300	6503	39890388	SO:0001819	synonymous_variant	23005	exon4			AB011168	CCDS32201.1, CCDS45239.1, CCDS58359.1	15q15.1	2013-01-10	2008-01-30		ENSG00000137802	ENSG00000137802		"""WD repeat domain containing"""	29536	protein-coding gene	gene with protein product			"""mitogen activated protein kinase binding protein 1"""			9628581, 10471813	Standard	NM_014994		Approved	KIAA0596	uc001zok.4	O60336	OTTHUMG00000160227	ENST00000456763.2:c.222G>A	15.37:g.42103096G>A			39890388	NM_014994	A6NM93|A8K8P9|Q14CB5|Q14CD8|Q49AJ8|Q5W9G9	Silent	SNP	ENST00000456763.2	37	CCDS45239.1	.	.	.	.	.	.	.	.	.	.	g	13.60	2.284305	0.40394	.	.	ENSG00000137802	ENST00000507762	.	.	.	5.03	-0.822	0.10819	.	.	.	.	.	T	0.62514	0.2434	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.64305	-0.6439	5	0.87932	D	0	-11.0628	9.026	0.36230	0.1468:0.33:0.5232:0.0	.	.	.	.	I	55	.	ENSP00000421891:V44I	V	+	1	0	MAPKBP1	39890388	0.263000	0.24083	0.989000	0.46669	0.980000	0.70556	-0.573000	0.05874	0.001000	0.14605	0.655000	0.94253	GTT		0.557	MAPKBP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000359745.1	NM_014994	
EHD4	30844	broad.mit.edu	37	15	42192954	42192954	+	Silent	SNP	C	C	T	rs370720124		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr15:42192954C>T	ENST00000220325.4	-	6	1598	c.1515G>A	c.(1513-1515)gcG>gcA	p.A505A	RP11-23P13.6_ENST00000564432.2_RNA	NM_139265.3	NP_644670.1	Q9H223	EHD4_HUMAN	EH-domain containing 4	505	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.|EH. {ECO:0000255|PROSITE- ProRule:PRU00077}.				cellular response to growth factor stimulus (GO:0071363)|endocytic recycling (GO:0032456)|pinocytosis (GO:0006907)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein homooligomerization (GO:0051260)|regulation of endocytosis (GO:0030100)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|nucleic acid binding (GO:0003676)	p.A505A(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		GCTTGGCCAGCGCGAACTCCT	0.642																																					p.A505A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1515A	15						.	C		0,4406		0,0,2203	57.0	50.0	53.0		1515	-9.7	0.2	15		53	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	EHD4	NM_139265.3		0,1,6501	TT,TC,CC		0.0116,0.0,0.0077		505/542	42192954	1,13003	2203	4299	6502	39980246	SO:0001819	synonymous_variant	30844	exon6			AF181265	CCDS10081.1	15q11.1	2013-01-10			ENSG00000103966	ENSG00000103966		"""EF-hand domain containing"""	3245	protein-coding gene	gene with protein product		605892		PAST4		10673336, 11533061	Standard	NM_139265		Approved		uc001zot.3	Q9H223	OTTHUMG00000130370	ENST00000220325.4:c.1515G>A	15.37:g.42192954C>T			39980246	NM_139265	Q9HAR1|Q9NZN2	Silent	SNP	ENST00000220325.4	37	CCDS10081.1																																																																																				0.642	EHD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252737.2	NM_139265	
ZNF106	64397	broad.mit.edu	37	15	42709536	42709536	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr15:42709536C>T	ENST00000263805.4	-	19	5944	c.5618G>A	c.(5617-5619)cGa>cAa	p.R1873Q	ZNF106_ENST00000565611.1_Missense_Mutation_p.R1058Q|ZNF106_ENST00000565380.1_Missense_Mutation_p.R1101Q	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1873					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.R1873Q(1)									TTCAGCATGTCGTTCAATATG	0.448																																					p.R1873Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G5618A	15						.						107.0	103.0	104.0					15																	42709536		2203	4299	6502	40496828	SO:0001583	missense	64397	exon19			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.5618G>A	15.37:g.42709536C>T	ENSP00000263805:p.Arg1873Gln		40496828	NM_022473	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Missense_Mutation	SNP	ENST00000263805.4	37	CCDS32208.1	.	.	.	.	.	.	.	.	.	.	C	15.17	2.755143	0.49362	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	T	0.56611	0.45	5.65	3.78	0.43462	Zinc finger, C2H2-like (1);	0.380218	0.26935	N	0.021757	T	0.35480	0.0933	N	0.21373	0.66	0.33515	D	0.591598	B;B;B	0.20550	0.046;0.041;0.046	B;B;B	0.10450	0.004;0.005;0.004	T	0.41324	-0.9515	10	0.44086	T	0.13	-4.4165	8.4876	0.33080	0.0:0.7126:0.0:0.2874	.	1101;1873;1101	E9PE29;Q9H2Y7;B4DZ40	.;ZF106_HUMAN;.	Q	1873;1101	ENSP00000263805:R1873Q	ENSP00000263805:R1873Q	R	-	2	0	ZFP106	40496828	0.886000	0.30341	0.971000	0.41717	0.978000	0.69477	0.707000	0.25704	0.941000	0.37499	0.655000	0.94253	CGA		0.448	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422587.1	NM_022473	
PLEKHO2	80301	broad.mit.edu	37	15	65153716	65153716	+	Missense_Mutation	SNP	G	G	A	rs143331139	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr15:65153716G>A	ENST00000323544.4	+	5	553	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	AC069368.3_ENST00000437723.1_Missense_Mutation_p.R142Q	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	142								p.R142Q(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						CATGTGACACGGGACCGGGTG	0.637																																					p.R92Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G275A	15						.	G	GLN/ARG,GLN/ARG	1,4399		0,1,2199	29.0	26.0	27.0		275,425	4.8	1.0	15	dbSNP_134	27	1,8597		0,1,4298	no	missense,missense	PLEKHO2	NM_001195059.1,NM_025201.4	43,43	0,2,6497	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	92/441,142/491	65153716	2,12996	2200	4299	6499	62940769	SO:0001583	missense	80301	exon4			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.425G>A	15.37:g.65153716G>A	ENSP00000326706:p.Arg142Gln		62940769	NM_001195059	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	ENST00000323544.4	37	CCDS10196.1	.	.	.	.	.	.	.	.	.	.	G	34	5.295525	0.95574	2.27E-4	1.16E-4	ENSG00000249240;ENSG00000241839;ENSG00000241839	ENST00000437723;ENST00000323544;ENST00000546008	T;T	0.24151	1.87;1.87	4.77	4.77	0.60923	.	0.308236	0.30134	N	0.010335	T	0.38585	0.1046	L	0.32530	0.975	0.49687	D	0.999812	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.944	T	0.04976	-1.0914	10	0.35671	T	0.21	.	14.6455	0.68756	0.0:0.0:1.0:0.0	.	92;142	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	Q	142	ENSP00000397942:R142Q;ENSP00000326706:R142Q	ENSP00000397942:R142Q	R	+	2	0	PLEKHO2;AC069368.3	62940769	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.882000	0.87258	2.470000	0.83445	0.462000	0.41574	CGG		0.637	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256659.1	NM_025201	
SLCO3A1	28232	broad.mit.edu	37	15	92690348	92690348	+	Silent	SNP	C	C	T	rs78550975	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr15:92690348C>T	ENST00000318445.6	+	8	1861	c.1647C>T	c.(1645-1647)atC>atT	p.I549I	SLCO3A1_ENST00000424469.2_Silent_p.I549I|RP11-152L20.3_ENST00000561674.1_RNA|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	549					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.I549I(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)		Alprostadil(DB00770)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Iloprost(DB01088)|Methotrexate(DB00563)	GCAGCCTGATCGGTGCCATGG	0.582													C|||	8	0.00159744	0.0	0.0029	5008	,	,		18322	0.0		0.006	False		,,,				2504	0.0				p.I549I												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1647T	15						.	C	,	1,4395	2.1+/-5.4	0,1,2197	138.0	111.0	120.0		1647,1647	-2.7	1.0	15	dbSNP_131	120	23,8573	16.0+/-53.3	0,23,4275	no	coding-synonymous,coding-synonymous	SLCO3A1	NM_001145044.1,NM_013272.3	,	0,24,6472	TT,TC,CC		0.2676,0.0227,0.1847	,	549/693,549/711	92690348	24,12968	2198	4298	6496	90491352	SO:0001819	synonymous_variant	28232	exon8			AB031050	CCDS10371.1, CCDS45354.1	15q26	2013-05-22	2003-11-25	2003-11-26	ENSG00000176463	ENSG00000176463		"""Solute carriers"""	10952	protein-coding gene	gene with protein product		612435	"""solute carrier family 21 (organic anion transporter), member 11"""	SLC21A11			Standard	NM_001145044		Approved	OATP-D, OATP3A1	uc002bqx.2	Q9UIG8	OTTHUMG00000149846	ENST00000318445.6:c.1647C>T	15.37:g.92690348C>T			90491352	NM_013272	A8K4A7|B3KPY5|B3KUR7|C6G486|Q9BW73|Q9GZV2	Silent	SNP	ENST00000318445.6	37	CCDS10371.1																																																																																				0.582	SLCO3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313529.1	NM_013272	
MYH11	4629	broad.mit.edu	37	16	15853493	15853493	+	Silent	SNP	G	G	T	rs200660016		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr16:15853493G>T	ENST00000300036.5	-	12	1450	c.1341C>A	c.(1339-1341)acC>acA	p.T447T	MYH11_ENST00000452625.2_Silent_p.T454T|MYH11_ENST00000396324.3_Silent_p.T454T|MYH11_ENST00000576790.2_Silent_p.T447T	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	447	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)	p.T454T(1)|p.T447T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTGCCGATGGGTCTTGTCCA	0.542			T	CBFB	AML								G|||	1	0.000199681	0.0	0.0	5008	,	,		18813	0.001		0.0	False		,,,				2504	0.0				p.T454T			Dom	yes		16	16p13.13-p13.12	4629	"""myosin, heavy polypeptide 11, smooth muscle"""		L	.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1362A	16						.						131.0	119.0	123.0					16																	15853493		2197	4300	6497	15760994	SO:0001819	synonymous_variant	4629	exon13			X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.1341C>A	16.37:g.15853493G>T			15760994	NM_001040114	D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Silent	SNP	ENST00000300036.5	37	CCDS10565.1																																																																																				0.542	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113	
SRCAP	10847	broad.mit.edu	37	16	30748503	30748503	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr16:30748503G>A	ENST00000262518.4	+	34	7527	c.7142G>A	c.(7141-7143)cGc>cAc	p.R2381H	SRCAP_ENST00000344771.4_Missense_Mutation_p.R2223H|SRCAP_ENST00000395059.2_Missense_Mutation_p.R2319H	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	2381					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R2381H(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ACCCACCGGCGCAGTAAAAAG	0.647																																					p.R2381H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G7142A	16						.						40.0	44.0	43.0					16																	30748503		2197	4300	6497	30656004	SO:0001583	missense	10847	exon34			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.7142G>A	16.37:g.30748503G>A	ENSP00000262518:p.Arg2381His		30656004	NM_006662	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	ENST00000262518.4	37	CCDS10689.2	.	.	.	.	.	.	.	.	.	.	G	12.60	1.987769	0.35036	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.92752	-2.98;-3.03;-3.1	4.8	4.8	0.61643	.	0.000000	0.46442	D	0.000285	D	0.89174	0.6640	N	0.08118	0	0.25006	N	0.991434	D;D	0.89917	1.0;1.0	D;D	0.69824	0.966;0.925	T	0.80652	-0.1287	10	0.66056	D	0.02	-1.4822	7.1659	0.25689	0.1815:0.0:0.8185:0.0	.	2319;2381	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	H	2381;2319;2223	ENSP00000262518:R2381H;ENSP00000378499:R2319H;ENSP00000343042:R2223H	ENSP00000262518:R2381H	R	+	2	0	SRCAP	30656004	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	4.513000	0.60476	2.513000	0.84729	0.558000	0.71614	CGC		0.647	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255523.1	NM_006662	
COX6A2	1339	broad.mit.edu	37	16	31439161	31439161	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr16:31439161G>A	ENST00000287490.4	-	3	330	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_005205.3	NP_005196.1	Q02221	CX6A2_HUMAN	cytochrome c oxidase subunit VIa polypeptide 2	76					generation of precursor metabolites and energy (GO:0006091)	mitochondrial respiratory chain complex IV (GO:0005751)	cytochrome-c oxidase activity (GO:0004129)	p.D76D(1)		endometrium(2)|large_intestine(2)|lung(1)	5						TGTGGTTGCCGTCCCCCCAGG	0.706																																					p.D76D												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C228T	16						.						40.0	41.0	41.0					16																	31439161		2197	4300	6497	31346662	SO:0001819	synonymous_variant	1339	exon3			U66875, M83308	CCDS10712.1	16p11.12	2011-07-04			ENSG00000156885	ENSG00000156885	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2279	protein-coding gene	gene with protein product		602009				1327966, 9177785	Standard	NM_005205		Approved		uc002ebx.2	Q02221	OTTHUMG00000132463	ENST00000287490.4:c.228C>T	16.37:g.31439161G>A			31346662	NM_005205	O00761|Q6GTW6	Silent	SNP	ENST00000287490.4	37	CCDS10712.1																																																																																				0.706	COX6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255626.2	NM_005205	
RBFOX1	54715	broad.mit.edu	37	16	7726807	7726807	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr16:7726807C>T	ENST00000550418.1	+	14	1950	c.962C>T	c.(961-963)cCt>cTt	p.P321L	RBFOX1_ENST00000340209.4_Missense_Mutation_p.P326L|RBFOX1_ENST00000355637.4_Missense_Mutation_p.P342L|RBFOX1_ENST00000535565.2_Missense_Mutation_p.P278L|RBFOX1_ENST00000553186.1_Missense_Mutation_p.P294L|RBFOX1_ENST00000547372.1_Missense_Mutation_p.P364L|RBFOX1_ENST00000552089.1_Missense_Mutation_p.P338L|RBFOX1_ENST00000547338.1_Missense_Mutation_p.P321L|RBFOX1_ENST00000422070.4_Missense_Mutation_p.P364L|RBFOX1_ENST00000311745.5_Missense_Mutation_p.P342L|RBFOX1_ENST00000436368.2_Missense_Mutation_p.P342L	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	321					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.P342L(2)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TACGCCCAGCCTACCCCTGCC	0.507																																					p.P342L	Ovarian(157;934 2567 15163 39509)											.	.	2	Substitution - Missense(2)	large_intestine(2)	c.C1025T	16						.						171.0	122.0	139.0					16																	7726807		2197	4300	6497	7666808	SO:0001583	missense	54715	exon11			AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.962C>T	16.37:g.7726807C>T	ENSP00000450031:p.Pro321Leu		7666808	NM_145893	Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	CCDS55983.1	.	.	.	.	.	.	.	.	.	.	C	24.3	4.516552	0.85495	.	.	ENSG00000078328	ENST00000550418;ENST00000553186;ENST00000547372;ENST00000422070;ENST00000535565;ENST00000552089;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000355637;ENST00000352951;ENST00000340209	T;T;T;T;T;T;T;T;T	0.39406	1.08;1.46;1.21;1.43;1.08;1.22;1.4;1.19;1.08	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.52208	0.1720	N	0.20401	0.57	0.80722	D	1	D;D;D;D;B;D;D;P	0.89917	0.991;0.999;0.996;1.0;0.098;0.999;0.991;0.952	P;D;D;D;B;D;P;P	0.91635	0.857;0.991;0.912;0.999;0.14;0.991;0.835;0.792	T	0.57814	-0.7746	10	0.66056	D	0.02	-7.93	18.7877	0.91961	0.0:1.0:0.0:0.0	.	315;278;364;342;342;342;294;321	F8WAC5;F5H0M1;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-5;Q9NWB1-3;Q9NWB1	.;.;.;.;.;.;.;RFOX1_HUMAN	L	321;294;364;364;278;338;321;342;342;342;315;326	ENSP00000450031:P321L;ENSP00000447753:P294L;ENSP00000446842:P364L;ENSP00000391269:P364L;ENSP00000447717:P321L;ENSP00000402745:P342L;ENSP00000309117:P342L;ENSP00000347855:P342L;ENSP00000344196:P326L	ENSP00000309117:P342L	P	+	2	0	RBFOX1	7666808	1.000000	0.71417	0.996000	0.52242	0.973000	0.67179	5.833000	0.69349	2.601000	0.87937	0.650000	0.86243	CCT		0.507	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	
ZFHX3	463	broad.mit.edu	37	16	72828433	72828434	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	GC	GC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr16:72828433_72828434GC>AA	ENST00000268489.5	-	9	8819_8820	c.8147_8148GC>TT	c.(8146-8148)tGC>tTT	p.C2716F	ZFHX3_ENST00000397992.5_Missense_Mutation_p.C1802F|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2716					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.C2716>?(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGAGCGCTCTGCAAAAAGGGCA	0.564																																					.												.	.	1	Complex(1)	large_intestine(1)	c.8147_8148TT	16						.																																			71385935	SO:0001583	missense	463	exon9			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.8147_8148delinsAA	16.37:g.72828433_72828434delinsAA	ENSP00000268489:p.Cys2716Phe		71385934	NM_006885	D3DWS8|O15101|Q13719	Missense_Mutation	DNP	ENST00000268489.5	37	CCDS10908.1																																																																																				0.564	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885	
VPS53	55275	broad.mit.edu	37	17	465783	465783	+	Nonsense_Mutation	SNP	G	G	A	rs200594402		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr17:465783G>A	ENST00000571805.1	-	14	1652	c.1516C>T	c.(1516-1518)Cga>Tga	p.R506*	VPS53_ENST00000401468.3_Nonsense_Mutation_p.R229*|VPS53_ENST00000291074.5_Nonsense_Mutation_p.R477*|VPS53_ENST00000446250.2_Nonsense_Mutation_p.R308*|VPS53_ENST00000574029.1_Intron|VPS53_ENST00000576149.1_5'UTR|VPS53_ENST00000437048.2_Nonsense_Mutation_p.R506*			Q5VIR6	VPS53_HUMAN	vacuolar protein sorting 53 homolog (S. cerevisiae)	506					protein transport (GO:0015031)	endosome (GO:0005768)|GARP complex (GO:0000938)|membrane (GO:0016020)		p.R477*(1)		breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		GCGTATTCTCGGAGGTACTTC	0.488																																					p.R506X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C1516T	17						.						83.0	78.0	80.0					17																	465783		2203	4300	6503	412533	SO:0001587	stop_gained	55275	exon14				CCDS10995.1, CCDS45558.1	17p13.3	2007-07-13	2006-12-19			ENSG00000141252			25608	protein-coding gene	gene with protein product		615850	"""vacuolar protein sorting 53 (yeast)"""			15878329	Standard	NM_018289		Approved	FLJ10979, HCCS1	uc010cjo.2	Q5VIR6		ENST00000571805.1:c.1516C>T	17.37:g.465783G>A	ENSP00000459312:p.Arg506*		412533	NM_001128159	A8K2S8|B3FH42|Q8WYW3|Q9BRR2|Q9BY02|Q9NV25	Nonsense_Mutation	SNP	ENST00000571805.1	37		.	.	.	.	.	.	.	.	.	.	G	47	13.270170	0.99731	.	.	ENSG00000141252	ENST00000437048;ENST00000446250;ENST00000291074;ENST00000401468;ENST00000389040	.	.	.	6.07	6.07	0.98685	.	0.051316	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.916	19.6321	0.95713	0.0:0.0:1.0:0.0	.	.	.	.	X	506;308;477;229;458	.	ENSP00000291074:R477X	R	-	1	2	VPS53	412533	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.011000	0.70760	2.884000	0.98904	0.655000	0.94253	CGA		0.488	VPS53-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000436940.2	NM_018289	
KRT40	125115	broad.mit.edu	37	17	39138693	39138693	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr17:39138693G>A	ENST00000398486.2	-	5	713	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	KRT40_ENST00000377755.4_Missense_Mutation_p.R185C	NM_182497.3	NP_872303.2	Q6A162	K1C40_HUMAN	keratin 40	185	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)	p.R185C(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				AACAGCTGGCGAAGGGACAGT	0.517																																					.												.	.	1	Substitution - Missense(1)	large_intestine(1)	.	17						.						79.0	78.0	79.0					17																	39138693		2015	4191	6206	36392219	SO:0001583	missense	125115	.			AK093919	CCDS42320.1	17q21.2	2013-01-16			ENSG00000204889	ENSG00000204889		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	26707	protein-coding gene	gene with protein product						16831889	Standard	NM_182497		Approved	FLJ36600, KA36	uc010cxh.1	Q6A162	OTTHUMG00000133596	ENST00000398486.2:c.553C>T	17.37:g.39138693G>A	ENSP00000381500:p.Arg185Cys		36392219	.	Q6IFU5	Missense_Mutation	SNP	ENST00000398486.2	37	CCDS42320.1	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464465	0.63513	.	.	ENSG00000204889	ENST00000377755;ENST00000398486	D;D	0.91792	-2.91;-2.91	5.18	5.18	0.71444	Filament (1);	0.000000	0.34156	N	0.004217	D	0.95872	0.8656	M	0.76002	2.32	0.43814	D	0.996377	D	0.89917	1.0	D	0.87578	0.998	D	0.96044	0.9026	10	0.66056	D	0.02	.	18.0326	0.89290	0.0:0.0:1.0:0.0	.	185	Q6A162	K1C40_HUMAN	C	185	ENSP00000366984:R185C;ENSP00000381500:R185C	ENSP00000366984:R185C	R	-	1	0	KRT40	36392219	0.999000	0.42202	0.996000	0.52242	0.584000	0.36387	6.024000	0.70857	2.577000	0.86979	0.591000	0.81541	CGC		0.517	KRT40-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257701.3	NM_182497	
GALR1	2587	broad.mit.edu	37	18	74980780	74980780	+	Silent	SNP	A	A	G			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr18:74980780A>G	ENST00000299727.3	+	3	972	c.972A>G	c.(970-972)aaA>aaG	p.K324K		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	324					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)	p.K324K(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		ACATTCGCAAAGATTCACACC	0.383																																					p.K324K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A972G	18						.						78.0	82.0	81.0					18																	74980780		2203	4300	6503	73109768	SO:0001819	synonymous_variant	2587	exon3			U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.972A>G	18.37:g.74980780A>G			73109768	NM_001480	Q4VBL7	Silent	SNP	ENST00000299727.3	37	CCDS12012.1																																																																																				0.383	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1		
BCAM	4059	broad.mit.edu	37	19	45315576	45315576	+	Nonsense_Mutation	SNP	C	C	T	rs121918133		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr19:45315576C>T	ENST00000270233.6	+	3	383	c.361C>T	c.(361-363)Cga>Tga	p.R121*	BCAM_ENST00000589651.1_Nonsense_Mutation_p.R121*	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	121	Ig-like V-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)	p.R121*(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GGGCGACGAGCGAGACTACGT	0.687																																					p.R121X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C361T	19	GRCh37	CM072885	BCAM	M	rs121918133	.						25.0	28.0	27.0					19																	45315576		2203	4298	6501	50007416	SO:0001587	stop_gained	4059	exon3			X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.361C>T	19.37:g.45315576C>T	ENSP00000270233:p.Arg121*		50007416	NM_001013257	A8MYF9|A9YWT5|A9YWT6|Q86VC7	Nonsense_Mutation	SNP	ENST00000270233.6	37	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	18.11	3.551811	0.65311	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	.	.	.	3.43	1.02	0.19986	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.6075	7.8184	0.29274	0.4494:0.5506:0.0:0.0	.	.	.	.	X	121	.	ENSP00000270233:R121X	R	+	1	2	BCAM	50007416	0.999000	0.42202	0.530000	0.27963	0.337000	0.28794	0.636000	0.24644	0.192000	0.20272	0.313000	0.20887	CGA		0.687	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581	
MARK4	57787	broad.mit.edu	37	19	45783969	45783969	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr19:45783969G>A	ENST00000262891.4	+	12	1584	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	MARK4_ENST00000300843.4_Missense_Mutation_p.R418H	NM_001199867.1	NP_001186796.1	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	418			R -> C (in a colorectal adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|nervous system development (GO:0007399)|positive regulation of programmed cell death (GO:0043068)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|gamma-tubulin binding (GO:0043015)|microtubule binding (GO:0008017)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)|ubiquitin binding (GO:0043130)	p.R418H(1)		NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		ACCTACCACCGCCAGCGCAGG	0.612																																					p.R418H												MARK4,large_intestine,caecum,Substitution - Missense,+1 	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1253A	19						.						104.0	83.0	90.0					19																	45783969		2203	4300	6503	50475809	SO:0001583	missense	57787	exon12			AB049127	CCDS12658.1, CCDS56097.1	19q13.32	2014-04-07	2002-06-12	2002-06-14	ENSG00000007047	ENSG00000007047	2.7.11.1		13538	protein-coding gene	gene with protein product		606495	"""MAP/microtubule affinity-regulating kinase like 1"""	MARKL1		23400999, 11326310, 9108484	Standard	NM_001199867		Approved	Nbla00650, FLJ90097, KIAA1860, PAR-1D	uc002paz.2	Q96L34	OTTHUMG00000181769	ENST00000262891.4:c.1253G>A	19.37:g.45783969G>A	ENSP00000262891:p.Arg418His		50475809	NM_001199867	Q8NG37|Q96JG7|Q96SQ2|Q9BYD8	Missense_Mutation	SNP	ENST00000262891.4	37	CCDS56097.1	.	.	.	.	.	.	.	.	.	.	G	35	5.425598	0.96131	.	.	ENSG00000007047	ENST00000262891;ENST00000300843	T;T	0.72725	-0.62;-0.68	5.91	5.91	0.95273	.	0.000000	0.64402	D	0.000001	T	0.81856	0.4911	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.80764	0.95;0.991;0.994	T	0.82472	-0.0440	10	0.87932	D	0	.	17.7884	0.88545	0.0:0.0:1.0:0.0	.	284;418;418	Q8N2N5;Q96L34;Q96L34-2	.;MARK4_HUMAN;.	H	418	ENSP00000262891:R418H;ENSP00000300843:R418H	ENSP00000262891:R418H	R	+	2	0	MARK4	50475809	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	8.479000	0.90431	2.804000	0.96469	0.462000	0.41574	CGC		0.612	MARK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457537.1	NM_031417	
CARD8	22900	broad.mit.edu	37	19	48734183	48734183	+	Missense_Mutation	SNP	G	G	A	rs139343522	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr19:48734183G>A	ENST00000359009.4	-	5	620	c.308C>T	c.(307-309)aCg>aTg	p.T103M	CARD8_ENST00000520015.1_Missense_Mutation_p.T208M|CARD8_ENST00000520153.1_Missense_Mutation_p.T158M|CARD8_ENST00000519940.1_Missense_Mutation_p.T208M|CARD8_ENST00000520753.1_Missense_Mutation_p.T208M|CARD8_ENST00000521613.1_Missense_Mutation_p.T158M|CARD8_ENST00000357778.5_De_novo_Start_InFrame|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000391898.3_Missense_Mutation_p.T208M|CARD8_ENST00000447740.2_Missense_Mutation_p.T158M			Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	103					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)|NLRP3 inflammasome complex (GO:0072559)|nucleus (GO:0005634)	cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|NACHT domain binding (GO:0032089)|protein homodimerization activity (GO:0042803)	p.T103M(1)		endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		AAACGCAATCGTCACTGTGAC	0.587													G|||	11	0.00219649	0.0076	0.0014	5008	,	,		15899	0.0		0.0	False		,,,				2504	0.0				p.T208M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C623T	19						.	G	MET/THR,MET/THR,MET/THR,MET/THR,MET/THR	13,4393	20.2+/-43.8	0,13,2190	64.0	50.0	55.0		623,473,623,623,473	-3.4	0.0	19	dbSNP_134	55	0,8600		0,0,4300	yes	missense,missense,missense,missense,missense	CARD8	NM_001184900.1,NM_001184901.1,NM_001184902.1,NM_001184903.1,NM_014959.3	81,81,81,81,81	0,13,6490	AA,AG,GG		0.0,0.2951,0.1	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	208/538,158/488,208/393,208/393,158/488	48734183	13,12993	2203	4300	6503	53425995	SO:0001583	missense	22900	exon9			AB023172	CCDS12712.1, CCDS12712.2, CCDS54287.1, CCDS54288.1, CCDS54289.1	19q13.33	2011-05-24			ENSG00000105483	ENSG00000105483			17057	protein-coding gene	gene with protein product		609051				10231032, 11408476	Standard	NM_001184900		Approved	TUCAN, KIAA0955, CARDINAL, NDPP, Dakar	uc010xzj.2	Q9Y2G2	OTTHUMG00000165047	ENST00000359009.4:c.308C>T	19.37:g.48734183G>A	ENSP00000351901:p.Thr103Met		53425995	NM_001184902	B5KVR6|B7Z496|B7Z4A2|E9PEM7|G3XAM9|Q6PGP8|Q96P82	Missense_Mutation	SNP	ENST00000359009.4	37		4	0.0018315018315018315	3	0.006097560975609756	1	0.0027624309392265192	0	0.0	0	0.0	G	8.374	0.835970	0.16891	0.002951	0.0	ENSG00000105483	ENST00000447740;ENST00000391898;ENST00000359009;ENST00000520753;ENST00000520153;ENST00000520015;ENST00000521613;ENST00000519940	T;T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23;2.23	1.7	-3.4	0.04853	.	.	.	.	.	T	0.12347	0.0300	N	0.22421	0.69	0.09310	N	1	D;D;D;D;D;D;D;D	0.76494	0.995;0.998;0.998;0.995;0.999;0.994;0.994;0.995	P;P;P;P;P;P;P;P	0.57324	0.781;0.806;0.806;0.703;0.818;0.579;0.674;0.708	T	0.21449	-1.0245	9	0.72032	D	0.01	.	6.1848	0.20491	0.0:0.2803:0.5256:0.194	.	127;208;208;141;208;158;103;103	B5KVR7;E9PEM7;B5KVR6;Q6MZI8;Q9Y2G2-3;G3XAM9;Q9Y2G2-2;Q9Y2G2	.;.;.;.;.;.;.;CARD8_HUMAN	M	158;208;103;208;158;208;158;208	ENSP00000391248:T158M;ENSP00000375767:T208M;ENSP00000351901:T103M;ENSP00000429839:T208M;ENSP00000428736:T158M;ENSP00000430747:T208M;ENSP00000427858:T158M;ENSP00000428883:T208M	ENSP00000351901:T103M	T	-	2	0	CARD8	53425995	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.186000	0.00566	-2.553000	0.00478	-1.744000	0.00683	ACG		0.587	CARD8-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014959	
ZNF677	342926	broad.mit.edu	37	19	53741591	53741591	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr19:53741591T>G	ENST00000598513.1	-	5	539	c.389A>C	c.(388-390)cAc>cCc	p.H130P	ZNF677_ENST00000333952.4_Missense_Mutation_p.H130P|CTD-2245F17.6_ENST00000596041.1_RNA	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	130					regulation of transcription, DNA-templated (GO:0006355)|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)	p.H130P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ATCTTTTCTGTGAGTGAGATT	0.353																																					p.H130P												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A389C	19						.						146.0	139.0	142.0					19																	53741591		2203	4299	6502	58433403	SO:0001583	missense	342926	exon5			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.389A>C	19.37:g.53741591T>G	ENSP00000469391:p.His130Pro		58433403	NM_182609		Missense_Mutation	SNP	ENST00000598513.1	37	CCDS12861.1	.	.	.	.	.	.	.	.	.	.	T	1.000	-0.691153	0.03303	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.06768	3.26	2.29	-4.59	0.03400	.	3.234560	0.01079	N	0.004954	T	0.04452	0.0122	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34477	-0.9827	10	0.36615	T	0.2	.	5.4684	0.16656	0.0:0.3879:0.2871:0.325	.	130	Q86XU0	ZN677_HUMAN	P	130	ENSP00000334394:H130P	ENSP00000334394:H130P	H	-	2	0	ZNF677	58433403	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-2.545000	0.00933	-2.475000	0.00527	-2.339000	0.00246	CAC		0.353	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464189.1	NM_182609	
OR1M1	125963	broad.mit.edu	37	19	9204469	9204469	+	Silent	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr19:9204469C>T	ENST00000429566.3	+	1	615	c.549C>T	c.(547-549)ccC>ccT	p.P183P		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P183P(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACCTCACTCCCATCCTCCGAC	0.552																																					p.P183P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C549T	19						.						151.0	121.0	131.0					19																	9204469		2203	4300	6503	9065469	SO:0001819	synonymous_variant	125963	exon1				CCDS32896.1	19p13.2	2013-09-20			ENSG00000170929	ENSG00000170929		"""GPCR / Class A : Olfactory receptors"""	8220	protein-coding gene	gene with protein product							Standard	NM_001004456		Approved	OR19-6	uc010xkj.2	Q8NGA1	OTTHUMG00000179930	ENST00000429566.3:c.549C>T	19.37:g.9204469C>T			9065469	NM_001004456	B9EHA6|Q6IFJ3|Q96R91	Silent	SNP	ENST00000429566.3	37	CCDS32896.1																																																																																				0.552	OR1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448993.1		
NLRP5	126206	broad.mit.edu	37	19	56539149	56539149	+	Missense_Mutation	SNP	G	G	A	rs201329420	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr19:56539149G>A	ENST00000390649.3	+	7	1550	c.1550G>A	c.(1549-1551)cGg>cAg	p.R517Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	517	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|embryo implantation (GO:0007566)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|neuron death (GO:0070997)|organ morphogenesis (GO:0009887)|regulation of protein stability (GO:0031647)|regulation of RNA stability (GO:0043487)	apical cortex (GO:0045179)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|protein complex (GO:0043234)	ATP binding (GO:0005524)	p.R517Q(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGCGTGGTCCGGCGCTGTCTC	0.592													G|||	3	0.000599042	0.0	0.0	5008	,	,		18843	0.0		0.0	False		,,,				2504	0.0031				p.R517Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1550A	19						.	G	GLN/ARG	1,4235		0,1,2117	44.0	45.0	45.0		1550	-5.5	0.0	19		45	1,8457		0,1,4228	yes	missense	NLRP5	NM_153447.4	43	0,2,6345	AA,AG,GG		0.0118,0.0236,0.0158	benign	517/1201	56539149	2,12692	2118	4229	6347	61230961	SO:0001583	missense	126206	exon7			AY154460	CCDS12938.1	19q13.43	2008-10-30	2006-12-08	2006-12-08	ENSG00000171487	ENSG00000171487		"""Nucleotide-binding domain and leucine rich repeat containing"""	21269	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 5"""	609658	"""NACHT, leucine rich repeat and PYD containing 5"""	NALP5		12563287, 11925379	Standard	NM_153447		Approved	PYPAF8, MATER, PAN11, CLR19.8	uc002qmj.3	P59047	OTTHUMG00000149887	ENST00000390649.3:c.1550G>A	19.37:g.56539149G>A	ENSP00000375063:p.Arg517Gln		61230961	NM_153447	A8MTY4|Q86W29	Missense_Mutation	SNP	ENST00000390649.3	37	CCDS12938.1	.	.	.	.	.	.	.	.	.	.	G	0.925	-0.714701	0.03206	2.36E-4	1.18E-4	ENSG00000171487	ENST00000390649	T	0.73047	-0.71	2.76	-5.52	0.02560	.	2.843000	0.01278	N	0.009654	T	0.47691	0.1459	N	0.20685	0.6	0.09310	N	1	B	0.23058	0.079	B	0.08055	0.003	T	0.37619	-0.9698	10	0.19147	T	0.46	.	2.0561	0.03582	0.5012:0.2353:0.1455:0.1179	.	517	P59047	NALP5_HUMAN	Q	517	ENSP00000375063:R517Q	ENSP00000375063:R517Q	R	+	2	0	NLRP5	61230961	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.444000	0.01012	-2.689000	0.00404	-1.102000	0.02115	CGG		0.592	NLRP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313735.1	NM_153447	
NRAS	4893	broad.mit.edu	37	1	115258747	115258747	+	Missense_Mutation	SNP	C	C	G	rs121913237		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:115258747C>G	ENST00000369535.4	-	2	288	c.35G>C	c.(34-36)gGt>gCt	p.G12A	CSDE1_ENST00000483407.1_5'Flank	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	12			G -> C (in leukemia). {ECO:0000269|PubMed:2998510}.|G -> D (in KNEN). {ECO:0000269|PubMed:22499344}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12D(375)|p.G12V(59)|p.G12A(42)|p.G12N(2)|p.G12E(1)|p.G12P(1)|p.G12Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCAACACCACCTGCTCCAAC	0.493	G12D(697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(HEC151_ENDOMETRIUM)|G12D(KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(THP1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																											p.G12A			Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	NRAS,haematopoietic_and_lymphoid_tissue,NS,Substitution - Missense,0 	.	481	Substitution - Missense(481)	haematopoietic_and_lymphoid_tissue(375)|skin(59)|large_intestine(21)|testis(5)|thyroid(4)|central_nervous_system(3)|endometrium(3)|biliary_tract(3)|ovary(3)|soft_tissue(2)|lung(2)|prostate(1)	c.G35C	1						.						206.0	184.0	191.0					1																	115258747		2203	4300	6503	115060270	SO:0001583	missense	4893	exon2	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.35G>C	1.37:g.115258747C>G	ENSP00000358548:p.Gly12Ala		115060270	NM_002524	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	C	36	5.618774	0.96649	.	.	ENSG00000213281	ENST00000369535	T	0.78003	-1.14	5.58	5.58	0.84498	Small GTP-binding protein domain (1);	0.000000	0.56097	U	0.000025	T	0.80808	0.4694	M	0.70842	2.15	0.80722	D	1	P	0.42296	0.775	P	0.48770	0.589	T	0.82454	-0.0449	10	0.87932	D	0	.	19.3769	0.94514	0.0:1.0:0.0:0.0	.	12	P01111	RASN_HUMAN	A	12	ENSP00000358548:G12A	ENSP00000358548:G12A	G	-	2	0	NRAS	115060270	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.651000	0.83577	2.906000	0.99361	0.655000	0.94253	GGT		0.493	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524	
WDR3	10885	broad.mit.edu	37	1	118501607	118501607	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:118501607C>T	ENST00000349139.5	+	26	2704	c.2657C>T	c.(2656-2658)tCa>tTa	p.S886L	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	886						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.S886L(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		ACAACTATTTCAAAAGTCAGC	0.353																																					p.S886L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2657T	1						.						63.0	65.0	64.0					1																	118501607		2202	4300	6502	118303130	SO:0001583	missense	10885	exon26			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2657C>T	1.37:g.118501607C>T	ENSP00000308179:p.Ser886Leu		118303130	NM_006784		Missense_Mutation	SNP	ENST00000349139.5	37	CCDS898.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989042	0.53934	.	.	ENSG00000065183	ENST00000349139	T	0.53206	0.63	5.68	4.77	0.60923	.	0.108901	0.64402	N	0.000004	T	0.29817	0.0745	L	0.56769	1.78	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.15206	-1.0445	10	0.37606	T	0.19	-3.7584	14.5018	0.67727	0.0:0.9299:0.0:0.0701	.	886	Q9UNX4	WDR3_HUMAN	L	886	ENSP00000308179:S886L	ENSP00000308179:S886L	S	+	2	0	WDR3	118303130	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	3.658000	0.54482	1.430000	0.47334	0.603000	0.83216	TCA		0.353	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033720.2	NM_006784	
ECM1	1893	broad.mit.edu	37	1	150484858	150484858	+	Missense_Mutation	SNP	C	C	T	rs587651183		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:150484858C>T	ENST00000369047.4	+	8	1239	c.1114C>T	c.(1114-1116)Cgg>Tgg	p.R372W	ECM1_ENST00000369049.4_Missense_Mutation_p.R399W|ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000346569.6_Missense_Mutation_p.R247W	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	372	2 X approximate repeats.				angiogenesis (GO:0001525)|biomineral tissue development (GO:0031214)|inflammatory response (GO:0006954)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of peptidase activity (GO:0010466)|ossification (GO:0001503)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of T cell migration (GO:2000404)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type 2 immune response (GO:0002828)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	enzyme binding (GO:0019899)|laminin binding (GO:0043236)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|signal transducer activity (GO:0004871)	p.R372W(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			ATACTGTGACCGGGAGTATGC	0.577													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19130	0.0		0.0	False		,,,				2504	0.0				p.R372W	Melanoma(156;1696 2560 11093 19685)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1114T	1						.						107.0	92.0	97.0					1																	150484858		2203	4300	6503	148751482	SO:0001583	missense	1893	exon8			U68186	CCDS953.1, CCDS954.1, CCDS55632.1	1q21	2008-02-05			ENSG00000143369	ENSG00000143369			3153	protein-coding gene	gene with protein product		602201				9367673, 9501329	Standard	NM_004425		Approved		uc001eus.3	Q16610	OTTHUMG00000012806	ENST00000369047.4:c.1114C>T	1.37:g.150484858C>T	ENSP00000358043:p.Arg372Trp		148751482	NM_004425	A8K8S0|B4DW49|B4DY60|O43266|Q5T5G4|Q5T5G5|Q5T5G6|Q8IZ60	Missense_Mutation	SNP	ENST00000369047.4	37	CCDS953.1	.	.	.	.	.	.	.	.	.	.	C	4.590	0.109674	0.08780	.	.	ENSG00000143369	ENST00000369049;ENST00000369047;ENST00000346569	D;D;D	0.86297	-2.1;-2.1;-2.1	4.49	1.24	0.21308	.	1.114540	0.06774	N	0.784095	T	0.61924	0.2386	L	0.27053	0.805	0.09310	N	1	B;B;B;B	0.18310	0.027;0.019;0.027;0.024	B;B;B;B	0.18561	0.006;0.022;0.011;0.017	T	0.55661	-0.8106	10	0.72032	D	0.01	0.0088	2.2584	0.04060	0.2252:0.4949:0.1703:0.1095	.	399;372;247;372	Q16610-4;C8CHS3;Q16610-2;Q16610	.;.;.;ECM1_HUMAN	W	399;372;247	ENSP00000358045:R399W;ENSP00000358043:R372W;ENSP00000271630:R247W	ENSP00000271630:R247W	R	+	1	2	ECM1	148751482	0.000000	0.05858	0.010000	0.14722	0.240000	0.25518	-0.494000	0.06451	0.560000	0.29169	0.563000	0.77884	CGG		0.577	ECM1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035832.2	NM_004425	
HRNR	388697	broad.mit.edu	37	1	152192466	152192466	+	Nonsense_Mutation	SNP	G	G	A	rs142288299		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:152192466G>A	ENST00000368801.2	-	3	1714	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	547					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.R547*(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCATGTCGGCCACGGCTA	0.587																																					p.R547X												.	.	2	Substitution - Nonsense(2)	large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)	c.C1639T	1						.	G	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	147.0	156.0	153.0		1639	1.7	0.0	1	dbSNP_134	153	2,8598	2.2+/-6.3	0,2,4298	yes	stop-gained	HRNR	NM_001009931.1		0,3,6500	AA,AG,GG		0.0233,0.0227,0.0231		547/2851	152192466	3,13003	2203	4300	6503	150459090	SO:0001587	stop_gained	388697	exon3			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.1639C>T	1.37:g.152192466G>A	ENSP00000357791:p.Arg547*		150459090	NM_001009931	Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.648708	0.87958	2.27E-4	2.33E-4	ENSG00000197915	ENST00000368801	.	.	.	2.72	1.73	0.24493	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	6.7027	0.23234	0.0:0.0:0.7188:0.2812	.	.	.	.	X	547	.	ENSP00000357791:R547X	R	-	1	2	HRNR	150459090	0.001000	0.12720	0.002000	0.10522	0.008000	0.06430	0.731000	0.26058	0.440000	0.26502	0.549000	0.68633	CGA		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868	
OLFML2B	25903	broad.mit.edu	37	1	161967994	161967994	+	Silent	SNP	G	G	A	rs34123330	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:161967994G>A	ENST00000294794.3	-	6	1518	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	OLFML2B_ENST00000367940.2_Silent_p.N366N	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	365					extracellular matrix organization (GO:0030198)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)	p.N365N(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGTCCGAGCGTTCAGGTCGC	0.612													G|||	14	0.00279553	0.0106	0.0	5008	,	,		18931	0.0		0.0	False		,,,				2504	0.0				p.N365N												.	.	2	Substitution - coding silent(2)	large_intestine(1)|lung(1)	c.C1095T	1						.	G		28,4378	34.3+/-65.2	0,28,2175	142.0	144.0	143.0		1095	-2.0	0.0	1	dbSNP_126	143	0,8600		0,0,4300	no	coding-synonymous	OLFML2B	NM_015441.1		0,28,6475	AA,AG,GG		0.0,0.6355,0.2153		365/751	161967994	28,12978	2203	4300	6503	160234618	SO:0001819	synonymous_variant	25903	exon6			BX648975	CCDS1236.1, CCDS72966.1	1q23.1	2008-02-05			ENSG00000162745	ENSG00000162745			24558	protein-coding gene	gene with protein product							Standard	XM_005245075		Approved	DKFZP586L151	uc001gbu.3	Q68BL8	OTTHUMG00000024047	ENST00000294794.3:c.1095C>T	1.37:g.161967994G>A			160234618	NM_015441	B7ZA39|Q5VU96|Q6NX46|Q86X11|Q9Y3X6	Silent	SNP	ENST00000294794.3	37	CCDS1236.1																																																																																				0.612	OLFML2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060552.2	NM_015441	
SLC9C2	284525	broad.mit.edu	37	1	173551070	173551070	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:173551070G>T	ENST00000367714.3	-	7	1140	c.718C>A	c.(718-720)Cag>Aag	p.Q240K	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Missense_Mutation_p.Q138K	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	240					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)	p.Q240K(1)									AATATACACTGAATGATTTTT	0.308																																					p.Q240K												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C718A	1						.						106.0	95.0	99.0					1																	173551070		2203	4299	6502	171817693	SO:0001583	missense	284525	exon7			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.718C>A	1.37:g.173551070G>T	ENSP00000356687:p.Gln240Lys		171817693	NM_178527	Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	G	6.206	0.406194	0.11754	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	T;T	0.05996	3.36;3.36	6.11	3.09	0.35607	Cation/H+ exchanger (1);	0.577065	0.16693	N	0.203464	T	0.02267	0.0070	L	0.54323	1.7	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.43015	-0.9417	10	0.29301	T	0.29	-1.7988	9.6473	0.39875	0.0:0.2915:0.5575:0.151	.	240	Q5TAH2	S9A11_HUMAN	K	240;138	ENSP00000356687:Q240K;ENSP00000445437:Q138K	ENSP00000356687:Q240K	Q	-	1	0	SLC9A11	171817693	0.333000	0.24731	0.014000	0.15608	0.053000	0.15095	1.057000	0.30492	0.393000	0.25203	-0.182000	0.12963	CAG		0.308	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527	
ABL2	27	broad.mit.edu	37	1	179079572	179079572	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:179079572C>T	ENST00000502732.1	-	11	1873	c.1670G>A	c.(1669-1671)gGg>gAg	p.G557E	ABL2_ENST00000512653.1_Missense_Mutation_p.G542E|ABL2_ENST00000504405.1_Missense_Mutation_p.G521E|ABL2_ENST00000344730.3_Missense_Mutation_p.G542E|ABL2_ENST00000367623.4_Missense_Mutation_p.G536E|ABL2_ENST00000507173.1_Missense_Mutation_p.G536E|ABL2_ENST00000408940.3_Missense_Mutation_p.G521E|ABL2_ENST00000511413.1_Missense_Mutation_p.G557E	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	557					actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.G521E(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGCGGCTCTCCCAAGCTCCTC	0.483			T	ETV6	AML																																p.G521E			Dom	yes		1	1q24-q25	27	v-abl Abelson murine leukemia viral oncogene homolog 2		L	.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1562A	1						.						86.0	89.0	88.0					1																	179079572		2203	4300	6503	177346195	SO:0001583	missense	27	exon10			M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1670G>A	1.37:g.179079572C>T	ENSP00000427562:p.Gly557Glu		177346195	NM_001168239	A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Missense_Mutation	SNP	ENST00000502732.1	37	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.736236	0.89482	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56	5.91	5.91	0.95273	.	0.000000	0.52532	D	0.000062	T	0.50956	0.1646	L	0.55990	1.75	0.80722	D	1	D;B;B;B;B;D;B;B	0.71674	0.998;0.28;0.141;0.141;0.038;0.995;0.038;0.141	P;B;B;B;B;P;B;B	0.62298	0.9;0.069;0.069;0.044;0.01;0.803;0.01;0.044	T	0.43988	-0.9357	10	0.62326	D	0.03	.	19.2867	0.94077	0.0:1.0:0.0:0.0	.	536;536;557;521;557;542;521;542	P42684-6;P42684-7;P42684-5;P42684-4;P42684;P42684-3;D1MPS6;P42684-10	.;.;.;.;ABL2_HUMAN;.;.;.	E	557;521;542;542;521;536;536;557	ENSP00000427562:G557E;ENSP00000386152:G521E;ENSP00000339209:G542E;ENSP00000423578:G542E;ENSP00000426831:G521E;ENSP00000356595:G536E;ENSP00000423413:G536E;ENSP00000424697:G557E	ENSP00000339209:G542E	G	-	2	0	ABL2	177346195	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.049000	0.76613	2.793000	0.96121	0.655000	0.94253	GGG		0.483	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
CACNA1E	777	broad.mit.edu	37	1	181745288	181745288	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:181745288C>T	ENST00000367573.2	+	38	5191	c.5191C>T	c.(5191-5193)Cgg>Tgg	p.R1731W	CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1663W|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1338W|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1682W|CACNA1E_ENST00000526775.1_Missense_Mutation_p.R1712W|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1731W|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1712W	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1731					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.R1731W(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GTACCTGACTCGGGACTCCTC	0.587																																					p.R1731W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C5191T	1						.						178.0	182.0	181.0					1																	181745288		2014	4189	6203	180011911	SO:0001583	missense	777	exon38			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.5191C>T	1.37:g.181745288C>T	ENSP00000356545:p.Arg1731Trp		180011911	NM_000721	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	32	5.159859	0.94727	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.97041	-4.13;-4.13;-4.22;-4.12;-4.2;-4.21;-4.22	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	D	0.98947	0.9642	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.97110	0.938;1.0;0.997	D	0.99395	1.0926	10	0.87932	D	0	.	19.7135	0.96105	0.0:1.0:0.0:0.0	.	1712;1731;1731	Q15878-2;Q15878;Q15878-3	.;CAC1E_HUMAN;.	W	1731;1712;1682;1663;1338;1712;1731	ENSP00000356542:R1731W;ENSP00000434814:R1712W;ENSP00000350183:R1682W;ENSP00000351101:R1663W;ENSP00000356539:R1338W;ENSP00000353222:R1712W;ENSP00000356545:R1731W	ENSP00000350183:R1682W	R	+	1	2	CACNA1E	180011911	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	4.834000	0.62774	2.769000	0.95229	0.655000	0.94253	CGG		0.587	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721	
NPL	80896	broad.mit.edu	37	1	182772899	182772899	+	Silent	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:182772899C>T	ENST00000367553.1	+	3	179	c.135C>T	c.(133-135)aaC>aaT	p.N45N	NPL_ENST00000258317.2_Silent_p.N45N|NPL_ENST00000367554.3_5'UTR|NPL_ENST00000367550.2_Silent_p.N45N|NPL_ENST00000367552.2_Silent_p.N45N|NPL_ENST00000463899.1_3'UTR|NPL_ENST00000367555.1_Silent_p.N45N	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)	45					carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)	p.N45N(2)		breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						GAGTGAAGAACATTTTTGGTA	0.403																																					p.N45N												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C135T	1						.						145.0	144.0	144.0					1																	182772899		2203	4300	6503	181039522	SO:0001819	synonymous_variant	80896	exon3			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.135C>T	1.37:g.182772899C>T			181039522	NM_030769	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Silent	SNP	ENST00000367553.1	37	CCDS1350.1																																																																																				0.403	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085463.1	NM_030769	
FAM58BP	339521	broad.mit.edu	37	1	200182740	200182740	+	IGR	SNP	G	G	C			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	G	G	G	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:200182740G>C								NR5A2 (36188 upstream) : RP11-532L16.3 (101822 downstream)																							ggacgccggagaggacgccag	0.677																																					p.E17Q												.	.	0			c.G49C	1						.						21.0	28.0	26.0					1																	200182740		2202	4297	6499	198449363	SO:0001628	intergenic_variant	339521	exon1																															1.37:g.200182740G>C			198449363	NM_001105517		Missense_Mutation	SNP		37																																																																																				0	0.677								
TNNI1	7135	broad.mit.edu	37	1	201379499	201379499	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:201379499C>T	ENST00000361379.4	-	8	613	c.521G>A	c.(520-522)cGg>cAg	p.R174Q	TNNI1_ENST00000367312.1_Missense_Mutation_p.R174Q|TNNI1_ENST00000555948.1_Missense_Mutation_p.R92Q|TNNI1_ENST00000336092.4_Missense_Mutation_p.R174Q	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	174					muscle filament sliding (GO:0030049)|regulation of striated muscle contraction (GO:0006942)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|troponin complex (GO:0005861)	metal ion binding (GO:0046872)	p.R174Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CATCTTCTTCCGGCCTTCCAT	0.547																																					p.R174Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G521A	1						.						165.0	139.0	148.0					1																	201379499		2203	4300	6503	199646122	SO:0001583	missense	7135	exon7			BC012600	CCDS1411.1	1q31.3	2008-02-05	2005-09-12		ENSG00000159173	ENSG00000159173			11945	protein-coding gene	gene with protein product		191042	"""troponin I, skeletal, slow"""			2365354, 8144655	Standard	NM_003281		Approved		uc021phd.1	P19237	OTTHUMG00000035736	ENST00000361379.4:c.521G>A	1.37:g.201379499C>T	ENSP00000354488:p.Arg174Gln		199646122	NM_003281	A6NEH3|A8MSJ0|Q659A5|Q6FGS7|Q6FGW1|Q6ICU2|Q86T57|Q96DT9	Missense_Mutation	SNP	ENST00000361379.4	37	CCDS1411.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504227	0.96371	.	.	ENSG00000159173	ENST00000358712;ENST00000361379;ENST00000336092;ENST00000413495;ENST00000555948;ENST00000367312	D;D;D;D	0.97870	-4.58;-4.58;-4.19;-4.58	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.98751	0.9580	M	0.85630	2.765	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.99849	1.1069	10	0.87932	D	0	-1.2576	18.1482	0.89665	0.0:1.0:0.0:0.0	.	174	P19237	TNNI1_HUMAN	Q	174;174;174;174;92;174	ENSP00000354488:R174Q;ENSP00000337022:R174Q;ENSP00000451307:R92Q;ENSP00000356281:R174Q	ENSP00000337022:R174Q	R	-	2	0	TNNI1	199646122	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.692000	0.84203	2.282000	0.76494	0.561000	0.74099	CGG		0.547	TNNI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087001.1	NM_003281	
PLEKHA6	22874	broad.mit.edu	37	1	204192652	204192652	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:204192652G>A	ENST00000272203.3	-	22	3409	c.3093C>T	c.(3091-3093)ccC>ccT	p.P1031P	PLEKHA6_ENST00000414478.1_Silent_p.P1051P	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	1031								p.P1031P(1)		breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			CAGACGACAGGGGGTTTGCTG	0.592																																					p.P1031P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C3093T	1						.						17.0	18.0	18.0					1																	204192652		2079	4021	6100	202459275	SO:0001819	synonymous_variant	22874	exon22			AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.3093C>T	1.37:g.204192652G>A			202459275	NM_014935	A7MD51|Q5VTI6	Silent	SNP	ENST00000272203.3	37	CCDS1444.1																																																																																				0.592	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935	
TCEB3	6924	broad.mit.edu	37	1	24082841	24082841	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:24082841G>A	ENST00000418390.2	+	9	2399	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R	TCEB3_ENST00000609199.1_Missense_Mutation_p.G684R	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	710					gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)	p.G684R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GGAAAAGTTTGGAACGGGAGG	0.512																																					p.G710R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2128A	1						.						59.0	55.0	56.0					1																	24082841		2201	4297	6498	23955428	SO:0001583	missense	6924	exon9			L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.2128G>A	1.37:g.24082841G>A	ENSP00000395574:p.Gly710Arg		23955428	NM_003198	B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	CCDS239.2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.490224	0.84962	.	.	ENSG00000011007	ENST00000418390	T	0.24908	1.83	5.61	4.69	0.59074	.	0.000000	0.64402	D	0.000016	T	0.54711	0.1875	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.63585	-0.6604	10	0.72032	D	0.01	-16.9896	16.2519	0.82491	0.0:0.0:0.8662:0.1338	.	710	Q14241	ELOA1_HUMAN	R	710	ENSP00000395574:G710R	ENSP00000395574:G710R	G	+	1	0	TCEB3	23955428	1.000000	0.71417	1.000000	0.80357	0.799000	0.45148	9.247000	0.95444	1.492000	0.48499	0.462000	0.41574	GGA		0.512	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198	
SYT14	255928	broad.mit.edu	37	1	210187084	210187084	+	Silent	SNP	C	C	T	rs540332386		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:210187084C>T	ENST00000472886.1	+	3	182	c.168C>T	c.(166-168)ggC>ggT	p.G56G	SYT14_ENST00000399639.2_Silent_p.G56G|SYT14_ENST00000422431.1_Silent_p.G101G|SYT14_ENST00000537238.1_Silent_p.G18G|SYT14_ENST00000534859.1_Silent_p.G56G|SYT14_ENST00000367019.1_Silent_p.G56G|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367015.1_Silent_p.G18G			Q8NB59	SYT14_HUMAN	synaptotagmin XIV	56					cell death (GO:0008219)	integral component of membrane (GO:0016021)	phospholipid binding (GO:0005543)	p.G56G(1)		endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AAAATGTTGGCGGGTTTCCAG	0.353													C|||	1	0.000199681	0.0	0.0014	5008	,	,		11448	0.0		0.0	False		,,,				2504	0.0				p.G56G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C168T	1						.						111.0	121.0	118.0					1																	210187084		2202	4300	6502	208253707	SO:0001819	synonymous_variant	255928	exon3			AK091517	CCDS31014.1, CCDS53470.1, CCDS58058.1	1q32.2	2013-01-21			ENSG00000143469	ENSG00000143469		"""Synaptotagmins"""	23143	protein-coding gene	gene with protein product		610949					Standard	NM_001256006		Approved	sytXIV, FLJ34198	uc001hhs.5	Q8NB59	OTTHUMG00000036652	ENST00000472886.1:c.168C>T	1.37:g.210187084C>T			208253707	NM_153262	B1AJU0|B1AJU1|F5H426|Q5THX7|Q707N3|Q707N4|Q707N5|Q707N6|Q707N7	Silent	SNP	ENST00000472886.1	37	CCDS31014.1																																																																																				0.353	SYT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089124.1	NM_153262	
ZNF683	257101	broad.mit.edu	37	1	26691287	26691310	+	In_Frame_Del	DEL	CCACCGAGCGCTGGGGTGCCCCAG	CCACCGAGCGCTGGGGTGCCCCAG	-	rs200435398|rs148069404|rs201284148|rs372936882|rs144078461|rs145815386	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	CCACCGAGCGCTGGGGTGCCCCAG	CCACCGAGCGCTGGGGTGCCCCAG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:26691287_26691310delCCACCGAGCGCTGGGGTGCCCCAG	ENST00000436292.1	-	4	847_870	c.727_750delCTGGGGCACCCCAGCGCTCGGTGG	c.(727-750)ctggggcaccccagcgctcggtggdel	p.LGHPSARW243del	ZNF683_ENST00000374204.1_In_Frame_Del_p.LGHPSARW243del|ZNF683_ENST00000403843.1_In_Frame_Del_p.LGHPSARW243del|ZNF683_ENST00000349618.3_In_Frame_Del_p.LGHPSARW243del			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	243					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L228_W235delLGHPSARW(1)|p.L243_W250delLGHPSARW(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GCAGGGTCTCCCACCGAGCGCTGGGGTGCCCCAGCTCATTGACC	0.643														765	0.152756	0.3585	0.072	5008	,	,		17943	0.0427		0.1004	False		,,,				2504	0.0992				p.243_250del												.	.	2	Deletion - In frame(2)	large_intestine(2)	c.727_750del	1						.		,	1178,3066		193,792,1137					,	-0.1	0.0		dbSNP_134	41	676,7574		34,608,3483	no	coding,coding	ZNF683	NM_173574.2,NM_001114759.1	,	227,1400,4620	A1A1,A1R,RR		8.1939,27.7568,14.8391	,	,		1854,10640				26563897	SO:0001651	inframe_deletion	257101	exon4			BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.727_750delCTGGGGCACCCCAGCGCTCGGTGG	1.37:g.26691287_26691310delCCACCGAGCGCTGGGGTGCCCCAG	ENSP00000388792:p.Leu243_Trp250del		26563874	NM_001114759	Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	In_Frame_Del	DEL	ENST00000436292.1	37																																																																																					0.643	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574	
MACF1	23499	broad.mit.edu	37	1	39898802	39898802	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:39898802G>A	ENST00000372915.3	+	66	17315	c.17228G>A	c.(17227-17229)gGg>gAg	p.G5743E	MACF1_ENST00000317713.7_Missense_Mutation_p.G3785E|MACF1_ENST00000539005.1_Missense_Mutation_p.G3655E|MACF1_ENST00000361689.2_Missense_Mutation_p.G3785E|MACF1_ENST00000289893.4_Missense_Mutation_p.G4287E|MACF1_ENST00000545844.1_Missense_Mutation_p.G3785E|MACF1_ENST00000564288.1_Missense_Mutation_p.G5847E|MACF1_ENST00000567887.1_Missense_Mutation_p.G5884E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5743					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.G4287E(1)|p.G3785E(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCACATGTGGGGAGGAGCAA	0.348																																					p.G3785E												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G11354A	1						.						77.0	77.0	77.0					1																	39898802		2203	4300	6503	39671389	SO:0001583	missense	23499	exon64			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.17228G>A	1.37:g.39898802G>A	ENSP00000362006:p.Gly5743Glu		39671389	NM_012090	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.6|24.6	4.553993|4.553993	0.86231|0.86231	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.36340|.	1.26;1.26;1.26;1.26;1.26;1.26|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|.	0.66479|.	0.2793|.	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	D;P;P|.	0.89917|.	1.0;0.928;0.503|.	D;P;B|.	0.76071|.	0.987;0.79;0.401|.	T|.	0.60031|.	-0.7342|.	10|.	0.21540|.	T|.	0.41|.	.|.	19.9961|19.9961	0.97386|0.97386	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	5743;3785;3729|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	E|X	3785;5743;3785;3785;3655;4287|2788	ENSP00000439537:G3785E;ENSP00000362006:G5743E;ENSP00000354573:G3785E;ENSP00000313438:G3785E;ENSP00000444364:G3655E;ENSP00000289893:G4287E|.	ENSP00000289893:G4287E|.	G|W	+|+	2|3	0|0	MACF1|MACF1	39671389|39671389	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.878000|5.878000	0.69682|0.69682	2.744000|2.744000	0.94065|0.94065	0.561000|0.561000	0.74099|0.74099	GGG|TGG		0.348	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044	
ZCCHC11	23318	broad.mit.edu	37	1	52947207	52947207	+	Missense_Mutation	SNP	T	T	G			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:52947207T>G	ENST00000371544.3	-	11	1998	c.1736A>C	c.(1735-1737)gAg>gCg	p.E579A	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E579A	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	579					cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.E579A(1)		NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TGAGTTTTTCTCAGTTGCACT	0.393																																					p.E579A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1736C	1						.						315.0	281.0	292.0					1																	52947207		2203	4300	6503	52719795	SO:0001583	missense	23318	exon11			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.1736A>C	1.37:g.52947207T>G	ENSP00000360599:p.Glu579Ala		52719795	NM_001009881	A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	Missense_Mutation	SNP	ENST00000371544.3	37	CCDS30716.1	.	.	.	.	.	.	.	.	.	.	T	10.70	1.422895	0.25639	.	.	ENSG00000134744	ENST00000257177;ENST00000371544;ENST00000484723	T;T;T	0.36340	1.26;1.26;1.26	5.86	4.74	0.60224	.	0.494785	0.22053	N	0.065292	T	0.17492	0.0420	N	0.12182	0.205	0.80722	D	1	B;B;B	0.17268	0.001;0.021;0.006	B;B;B	0.18263	0.002;0.021;0.003	T	0.13150	-1.0520	10	0.22706	T	0.39	.	4.6984	0.12815	0.0:0.1461:0.2106:0.6434	.	338;579;579	E9PKX1;Q5TAX3-2;Q5TAX3	.;.;TUT4_HUMAN	A	579;579;338	ENSP00000257177:E579A;ENSP00000360599:E579A;ENSP00000435256:E338A	ENSP00000257177:E579A	E	-	2	0	ZCCHC11	52719795	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.991000	0.49409	2.234000	0.73211	0.528000	0.53228	GAG		0.393	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022462.1	XM_038288	
OR2G6	391211	broad.mit.edu	37	1	248685373	248685373	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr1:248685373G>A	ENST00000343414.4	+	1	458	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	142						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A142A(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTTCTGTGCGTCTCTGGCCG	0.587																																					p.A142A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G426A	1						.						67.0	53.0	58.0					1																	248685373		2203	4300	6503	246751996	SO:0001819	synonymous_variant	391211	exon1				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.426G>A	1.37:g.248685373G>A			246751996	NM_001013355	B2RP33	Silent	SNP	ENST00000343414.4	37	CCDS31119.1																																																																																				0.587	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842	
PLCB1	23236	broad.mit.edu	37	20	8608984	8608984	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr20:8608984G>A	ENST00000338037.6	+	4	317	c.290G>A	c.(289-291)cGc>cAc	p.R97H	PLCB1_ENST00000378641.3_Missense_Mutation_p.R97H|PLCB1_ENST00000378637.2_Missense_Mutation_p.R97H	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	97					activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)	p.R97H(2)		NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACATCGGGCGCCTGGAGCAG	0.463																																					p.R97H												.	.	2	Substitution - Missense(2)	large_intestine(2)	c.G290A	20						.						107.0	101.0	103.0					20																	8608984		2203	4300	6503	8556984	SO:0001583	missense	23236	exon4			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.290G>A	20.37:g.8608984G>A	ENSP00000338185:p.Arg97His		8556984	NM_182734	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	ENST00000338037.6	37	CCDS13102.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401533	0.42613	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000404098;ENST00000441163;ENST00000535719	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	6.17	5.22	0.72569	.	0.293873	0.39544	N	0.001324	T	0.49150	0.1540	L	0.39898	1.24	0.32371	N	0.555791	P;D;B	0.64830	0.934;0.994;0.017	B;P;B	0.57283	0.346;0.817;0.007	T	0.59263	-0.7487	10	0.39692	T	0.17	.	13.6298	0.62189	0.0759:0.0:0.9241:0.0	.	97;97;96	Q9NQ66;Q9NQ66-2;B1AK73	PLCB1_HUMAN;.;.	H	97;97;97;96;17;17	ENSP00000367908:R97H;ENSP00000338185:R97H;ENSP00000367904:R97H;ENSP00000384001:R96H	ENSP00000338185:R97H	R	+	2	0	PLCB1	8556984	1.000000	0.71417	0.946000	0.38457	0.814000	0.46013	3.581000	0.53914	1.598000	0.50083	0.655000	0.94253	CGC		0.463	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077938.3		
PCSK2	5126	broad.mit.edu	37	20	17462523	17462523	+	Silent	SNP	C	C	T	rs139585816		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr20:17462523C>T	ENST00000262545.2	+	12	2040	c.1725C>T	c.(1723-1725)gtC>gtT	p.V575V	PCSK2_ENST00000377899.1_Silent_p.V556V|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000536609.1_Silent_p.V540V	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	575					cellular protein metabolic process (GO:0044267)|embryo development (GO:0009790)|enkephalin processing (GO:0034230)|insulin processing (GO:0030070)|islet amyloid polypeptide processing (GO:0034231)|nervous system development (GO:0007399)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	dendrite (GO:0030425)|extracellular space (GO:0005615)|membrane (GO:0016020)|perikaryon (GO:0043204)|secretory granule lumen (GO:0034774)	serine-type endopeptidase activity (GO:0004252)	p.V575V(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TGGGATTTGTCGGCAGCGCCC	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		18771	0.001		0.0	False		,,,				2504	0.0				p.V575V												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C1725T	20						.	C	,,	0,4406		0,0,2203	38.0	40.0	39.0		1668,1620,1725	-10.0	0.7	20	dbSNP_134	39	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous	PCSK2	NM_001201528.1,NM_001201529.1,NM_002594.3	,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,	556/620,540/604,575/639	17462523	1,13005	2203	4300	6503	17410523	SO:0001819	synonymous_variant	5126	exon12			AK312341	CCDS13125.1, CCDS56179.1, CCDS56180.1	20p11.2	2008-08-01			ENSG00000125851	ENSG00000125851			8744	protein-coding gene	gene with protein product	"""neuroendocrine convertase 2"", ""KEX2-like endoprotease 2"""	162151		NEC2		1765368	Standard	NM_001201528		Approved	PC2, SPC2	uc002wpm.3	P16519	OTTHUMG00000031941	ENST00000262545.2:c.1725C>T	20.37:g.17462523C>T			17410523	NM_002594	B1ANH9|B4DFQ3|Q14927|Q5JYQ1|Q8IWA8|Q9NQG3|Q9NUG1|Q9UJC6	Silent	SNP	ENST00000262545.2	37	CCDS13125.1																																																																																				0.617	PCSK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078120.2	NM_002594	
PANX2	56666	broad.mit.edu	37	22	50617446	50617446	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr22:50617446C>T	ENST00000395842.2	+	3	1774	c.1774C>T	c.(1774-1776)Cgc>Tgc	p.R592C	PANX2_ENST00000159647.5_Missense_Mutation_p.R592C	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	592					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)	p.R582C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GTTCCACGTCCGCTCACCTCC	0.692																																					p.R592C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1774T	22						.						25.0	22.0	23.0					22																	50617446		2190	4300	6490	48959573	SO:0001583	missense	56666	exon3				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1774C>T	22.37:g.50617446C>T	ENSP00000379183:p.Arg592Cys		48959573	NM_052839	B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	ENST00000395842.2	37	CCDS14085.2	.	.	.	.	.	.	.	.	.	.	C	12.01	1.810138	0.32053	.	.	ENSG00000073150	ENST00000159647;ENST00000395842;ENST00000401643	T;T	0.21191	2.02;2.02	3.71	2.66	0.31614	.	0.257227	0.32819	N	0.005614	T	0.06962	0.0177	N	0.01168	-0.975	0.32033	N	0.599238	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.06391	-1.0829	10	0.54805	T	0.06	-7.8983	7.7948	0.29141	0.0:0.193:0.0:0.807	.	592;592	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	C	592;592;269	ENSP00000159647:R592C;ENSP00000379183:R592C	ENSP00000159647:R592C	R	+	1	0	PANX2	48959573	0.969000	0.33509	1.000000	0.80357	0.775000	0.43874	0.092000	0.15066	0.614000	0.30107	0.305000	0.20034	CGC		0.692	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075010.3	NM_052839	
RAB6C	84084	broad.mit.edu	37	2	130737700	130737700	+	Silent	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:130737700C>T	ENST00000410061.2	+	1	466	c.12C>T	c.(10-12)ggC>ggT	p.G4G	AC079776.7_ENST00000412425.1_RNA	NM_032144.2	NP_115520.2	Q9H0N0	RAB6C_HUMAN	RAB6C, member RAS oncogene family	4	Required for centrosome localization.				cell cycle process (GO:0022402)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of centrosome duplication (GO:0010824)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.G4G(1)		large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	5	Colorectal(110;0.1)					TGTCCGCGGGCGGAGACTTCG	0.577																																					p.G4G												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C12T	2						.						7.0	9.0	9.0					2																	130737700		2014	4187	6201	130454170	SO:0001819	synonymous_variant	84084	exon1			AF124200	CCDS46408.1	2q21.1	2012-07-02			ENSG00000222014	ENSG00000222014		"""RAB, member RAS oncogene"""	16525	protein-coding gene	gene with protein product		612909				11054569, 17426708	Standard	NM_032144		Approved	WTH3	uc002tpx.1	Q9H0N0	OTTHUMG00000153487	ENST00000410061.2:c.12C>T	2.37:g.130737700C>T			130454170	NM_032144	Q53RU3|Q6FIF7|Q9P128	Silent	SNP	ENST00000410061.2	37	CCDS46408.1																																																																																				0.577	RAB6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331384.1	NM_032144	
ACMSD	130013	broad.mit.edu	37	2	135621106	135621106	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:135621106C>T	ENST00000356140.5	+	5	527	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000283054.4_Missense_Mutation_p.R73C|ACMSD_ENST00000392928.1_Missense_Mutation_p.R73C	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase	131					cellular nitrogen compound metabolic process (GO:0034641)|quinolinate metabolic process (GO:0046874)|small molecule metabolic process (GO:0044281)|tryptophan catabolic process (GO:0006569)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminocarboxymuconate-semialdehyde decarboxylase activity (GO:0001760)|metal ion binding (GO:0046872)	p.R131C(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		GGAGATGGAGCGCTGTGTGAA	0.617																																					p.R131C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C391T	2						.						77.0	62.0	67.0					2																	135621106		2203	4300	6503	135337576	SO:0001583	missense	130013	exon5			AB071418	CCDS2173.2	2q21.3	2008-03-11			ENSG00000153086	ENSG00000153086	4.1.1.45		19288	protein-coding gene	gene with protein product		608889				12140278	Standard	NM_138326		Approved		uc002ttz.3	Q8TDX5	OTTHUMG00000131711	ENST00000356140.5:c.391C>T	2.37:g.135621106C>T	ENSP00000348459:p.Arg131Cys		135337576	NM_138326	Q3B7X3|Q53SR5|Q96KY2	Missense_Mutation	SNP	ENST00000356140.5	37	CCDS2173.2	.	.	.	.	.	.	.	.	.	.	C	27.1	4.795855	0.90453	.	.	ENSG00000153086	ENST00000356140;ENST00000283054;ENST00000392928	.	.	.	5.74	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.86368	0.5916	H	0.94542	3.55	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.983;1.0	D	0.90202	0.4258	9	0.87932	D	0	-3.3501	14.6975	0.69132	0.0:0.9306:0.0:0.0694	.	73;131	Q53SR5;Q8TDX5	.;ACMSD_HUMAN	C	131;73;73	.	ENSP00000283054:R73C	R	+	1	0	ACMSD	135337576	1.000000	0.71417	1.000000	0.80357	0.926000	0.56050	5.773000	0.68898	1.435000	0.47434	0.561000	0.74099	CGC		0.617	ACMSD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254627.1		
RBM43	375287	broad.mit.edu	37	2	152107472	152107472	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:152107472G>A	ENST00000331426.5	-	4	1173	c.1022C>T	c.(1021-1023)aCt>aTt	p.T341I		NM_198557.2	NP_940959.1	Q6ZSC3	RBM43_HUMAN	RNA binding motif protein 43	341							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)	p.T341I(1)		endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAACAGGTAAGTGTCAGAAGA	0.358																																					p.T341I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C1022T	2						.						174.0	172.0	173.0					2																	152107472		2203	4300	6503	151815718	SO:0001583	missense	375287	exon4			AK127552	CCDS2191.1	2q23.3	2007-01-30	2007-01-30	2007-01-30	ENSG00000184898	ENSG00000184898		"""RNA binding motif (RRM) containing"""	24790	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 38"""	C2orf38			Standard	NM_198557		Approved	FLJ45645	uc002txh.3	Q6ZSC3	OTTHUMG00000131866	ENST00000331426.5:c.1022C>T	2.37:g.152107472G>A	ENSP00000331211:p.Thr341Ile		151815718	NM_198557	B2RMT5	Missense_Mutation	SNP	ENST00000331426.5	37	CCDS2191.1	.	.	.	.	.	.	.	.	.	.	G	13.34	2.206860	0.39003	.	.	ENSG00000184898	ENST00000331426	T	0.46063	0.88	5.48	3.68	0.42216	.	0.513281	0.20189	N	0.097359	T	0.29749	0.0743	L	0.32530	0.975	0.51767	D	0.999938	P	0.40211	0.707	B	0.38655	0.278	T	0.04427	-1.0952	10	0.46703	T	0.11	-4.0179	6.954	0.24560	0.2788:0.0:0.7212:0.0	.	341	Q6ZSC3	RBM43_HUMAN	I	341	ENSP00000331211:T341I	ENSP00000331211:T341I	T	-	2	0	RBM43	151815718	0.000000	0.05858	0.715000	0.30552	0.996000	0.88848	-0.507000	0.06352	0.868000	0.35678	0.655000	0.94253	ACT		0.358	RBM43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254816.2	NM_198557	
GALNT13	114805	broad.mit.edu	37	2	154801092	154801092	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:154801092T>C	ENST00000392825.3	+	3	649	c.82T>C	c.(82-84)Ttc>Ctc	p.F28L	GALNT13_ENST00000409237.1_Missense_Mutation_p.F28L	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	polypeptide N-acetylgalactosaminyltransferase 13	28					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.F28L(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ACTGCTGTACTTCAGTGAATG	0.418																																					p.F28L												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T82C	2						.						254.0	225.0	235.0					2																	154801092		2203	4300	6503	154509338	SO:0001583	missense	114805	exon3			AB067505	CCDS2199.1	2q24.1	2014-03-13	2014-03-13		ENSG00000144278	ENSG00000144278	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23242	protein-coding gene	gene with protein product	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13"", ""polypeptide GalNAc transferase 13"""	608369	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)"""			11572484, 12407114	Standard	XM_005246267		Approved	KIAA1918, GalNAc-T13	uc002tyr.4	Q8IUC8	OTTHUMG00000131917	ENST00000392825.3:c.82T>C	2.37:g.154801092T>C	ENSP00000376570:p.Phe28Leu		154509338	NM_052917	Q08ER7|Q68VI8|Q6ZWG1|Q96PX0|Q9UIE5	Missense_Mutation	SNP	ENST00000392825.3	37	CCDS2199.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.717158	0.89205	.	.	ENSG00000144278	ENST00000392825;ENST00000409237	T;T	0.59502	0.33;0.26	5.43	5.43	0.79202	.	.	.	.	.	T	0.66056	0.2751	M	0.73962	2.25	0.80722	D	1	P;B	0.51449	0.945;0.058	P;B	0.50537	0.643;0.013	T	0.66340	-0.5948	9	0.31617	T	0.26	.	14.2927	0.66289	0.0:0.0:0.0:1.0	.	28;28	Q08ER7;Q8IUC8	.;GLT13_HUMAN	L	28	ENSP00000376570:F28L;ENSP00000387239:F28L	ENSP00000376570:F28L	F	+	1	0	GALNT13	154509338	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.968000	0.87980	2.056000	0.61249	0.477000	0.44152	TTC		0.418	GALNT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254870.2	NM_052917	
GALNT5	11227	broad.mit.edu	37	2	158114819	158114819	+	Silent	SNP	A	A	G			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:158114819A>G	ENST00000259056.4	+	1	710	c.225A>G	c.(223-225)aaA>aaG	p.K75K		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	75					cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.K75K(1)		breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						AAGAGATGAAACCTCCCCTAA	0.483																																					p.K75K												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.A225G	2						.						110.0	122.0	118.0					2																	158114819		2203	4300	6503	157823065	SO:0001819	synonymous_variant	11227	exon1			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.225A>G	2.37:g.158114819A>G			157823065	NM_014568	A5PKZ1|Q9UGK7|Q9UHL6	Silent	SNP	ENST00000259056.4	37	CCDS2203.1																																																																																				0.483	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254925.2	NM_014568	
RAPGEF4	11069	broad.mit.edu	37	2	173659772	173659772	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:173659772G>T	ENST00000397081.3	+	2	228	c.85G>T	c.(85-87)Gaa>Taa	p.E29*	RAPGEF4_ENST00000264111.6_Nonsense_Mutation_p.E29*|RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.E29*	NM_007023.3	NP_008954.2	Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	29					blood coagulation (GO:0007596)|calcium ion-dependent exocytosis (GO:0017156)|cAMP-mediated signaling (GO:0019933)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|insulin secretion (GO:0030073)|platelet activation (GO:0030168)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of exocytosis (GO:0017157)|regulation of insulin secretion (GO:0050796)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase regulator activity (GO:0008603)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.E29*(1)|p.E29K(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			GCGATCCAGCGAAGATGTGGA	0.368																																					p.E29X												.	.	2	Substitution - Missense(1)|Substitution - Nonsense(1)	large_intestine(1)|skin(1)	c.G85T	2						.						146.0	141.0	143.0					2																	173659772		1833	4080	5913	173368018	SO:0001587	stop_gained	11069	exon2			U78516	CCDS42775.1, CCDS42776.1, CCDS63060.1, CCDS63061.1, CCDS74604.1	2q31-q32	2008-02-05	2004-03-26		ENSG00000091428	ENSG00000091428			16626	protein-coding gene	gene with protein product	"""cAMP-regulated guanine nucleotide exchange factor II"", "" exchange protein directly activated by cAMP 2"""	606058	"""RAP guanine-nucleotide-exchange factor (GEF) 4"""			10777494, 9856955	Standard	NM_007023		Approved	cAMP-GEFII, CGEF2	uc002uhv.4	Q8WZA2	OTTHUMG00000133677	ENST00000397081.3:c.85G>T	2.37:g.173659772G>T	ENSP00000380271:p.Glu29*		173368018	NM_007023	B2R7R3|B7Z283|B7Z3T6|B7Z912|O95636|Q8IXK6|Q8TAA4	Nonsense_Mutation	SNP	ENST00000397081.3	37	CCDS42775.1	.	.	.	.	.	.	.	.	.	.	G	36	5.693995	0.96793	.	.	ENSG00000091428	ENST00000264111;ENST00000397081;ENST00000409036	.	.	.	5.46	5.46	0.80206	.	0.205916	0.49916	D	0.000123	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.3112	0.94188	0.0:0.0:1.0:0.0	.	.	.	.	X	29	.	ENSP00000264111:E29X	E	+	1	0	RAPGEF4	173368018	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.357000	0.97099	2.556000	0.86216	0.650000	0.86243	GAA		0.368	RAPGEF4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257864.2	NM_007023	
TTN	7273	broad.mit.edu	37	2	179398792	179398792	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:179398792C>T	ENST00000591111.1	-	308	97851	c.97627G>A	c.(97627-97629)Gaa>Aaa	p.E32543K	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E25311K|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E34184K|TTN_ENST00000342992.6_Missense_Mutation_p.E31616K|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E25244K|TTN_ENST00000460472.2_Missense_Mutation_p.E25119K|TTN-AS1_ENST00000592600.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32543	Ig-like 143.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E25311K(1)|p.E31614K(1)|p.E25119K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGTGATTTCGTATTTCTCA	0.403																																					p.T25118T												.	.	3	Substitution - Missense(3)	large_intestine(3)	c.G75354A	2						.						112.0	107.0	109.0					2																	179398792		1959	4153	6112	179107038	SO:0001583	missense	7273	exon186			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.97627G>A	2.37:g.179398792C>T	ENSP00000465570:p.Glu32543Lys		179107038	NM_003319	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	19.44	3.827219	0.71143	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.65364	-0.15;-0.15;-0.15;-0.15	5.39	5.39	0.77823	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Protein kinase-like domain (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.67277	0.2876	N	0.16130	0.375	0.58432	D	0.99999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.73241	-0.4045	9	0.87932	D	0	.	18.2875	0.90119	0.0:1.0:0.0:0.0	.	25119;25244;25311;32543	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	31616;25119;25311;25244;25116	ENSP00000343764:E31616K;ENSP00000434586:E25119K;ENSP00000340554:E25311K;ENSP00000352154:E25244K	ENSP00000340554:E25311K	E	-	1	0	TTN	179107038	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.752000	0.85141	2.694000	0.91930	0.484000	0.47621	GAA		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	broad.mit.edu	37	2	179576942	179576942	+	Silent	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:179576942C>T	ENST00000591111.1	-	94	26888	c.26664G>A	c.(26662-26664)ccG>ccA	p.P8888P	TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.P9205P|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Silent_p.P7961P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13033	Ig-like 72.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.P7961P(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACAAAATACGGTGGTTCTG	0.448																																					p.P7961P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G23883A	2						.						77.0	76.0	77.0					2																	179576942		1918	4127	6045	179285187	SO:0001819	synonymous_variant	7273	exon93			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.26664G>A	2.37:g.179576942C>T			179285187	NM_133378	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ERBB4	2066	broad.mit.edu	37	2	212295680	212295680	+	Missense_Mutation	SNP	T	T	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:212295680T>A	ENST00000342788.4	-	21	2943	c.2633A>T	c.(2632-2634)gAt>gTt	p.D878V	ERBB4_ENST00000436443.1_Missense_Mutation_p.D878V|ERBB4_ENST00000402597.1_Missense_Mutation_p.D868V	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	878	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.D878V(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	CTTTCCTCCATCAGCATTGTA	0.368										TSP Lung(8;0.080)																											p.D878V												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A2633T	2						.						148.0	139.0	142.0					2																	212295680		2203	4300	6503	212003925	SO:0001583	missense	2066	exon21			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.2633A>T	2.37:g.212295680T>A	ENSP00000342235:p.Asp878Val		212003925	NM_005235	B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	ENST00000342788.4	37	CCDS2394.1	.	.	.	.	.	.	.	.	.	.	T	18.55	3.647674	0.67358	.	.	ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597	D;D;D	0.82711	-1.64;-1.64;-1.64	5.19	5.19	0.71726	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	N	0.12637	0.245	0.80722	D	1	D;P;D;D	0.55605	0.965;0.923;0.965;0.972	P;P;P;P	0.60286	0.749;0.872;0.749;0.838	D	0.85687	0.1304	10	0.87932	D	0	.	15.3274	0.74176	0.0:0.0:0.0:1.0	.	868;868;878;878	Q15303-4;Q15303-2;Q15303-3;Q15303	.;.;.;ERBB4_HUMAN	V	878;878;868	ENSP00000342235:D878V;ENSP00000403204:D878V;ENSP00000385565:D868V	ENSP00000342235:D878V	D	-	2	0	ERBB4	212003925	1.000000	0.71417	1.000000	0.80357	0.435000	0.31806	7.967000	0.87967	2.073000	0.62155	0.460000	0.39030	GAT		0.368	ERBB4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256597.1	NM_001042599	
ABCA12	26154	broad.mit.edu	37	2	215862471	215862471	+	Missense_Mutation	SNP	A	A	G			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:215862471A>G	ENST00000272895.7	-	23	3461	c.3242T>C	c.(3241-3243)aTa>aCa	p.I1081T	ABCA12_ENST00000389661.4_Missense_Mutation_p.I763T	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1081					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)	p.I1081T(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AAAGGCAGCTATAAATACAAC	0.368																																					p.I1081T	Ovarian(66;664 1488 5121 34295)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T3242C	2						.						91.0	88.0	89.0					2																	215862471		2203	4300	6503	215570716	SO:0001583	missense	26154	exon23			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3242T>C	2.37:g.215862471A>G	ENSP00000272895:p.Ile1081Thr		215570716	NM_173076	Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Missense_Mutation	SNP	ENST00000272895.7	37	CCDS33372.1	.	.	.	.	.	.	.	.	.	.	A	25.8	4.673056	0.88445	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	D;D	0.87029	-2.2;-2.2	6.07	6.07	0.98685	.	0.072432	0.64402	D	0.000017	D	0.91948	0.7450	L	0.59436	1.845	0.80722	D	1	D;D	0.64830	0.994;0.97	D;P	0.67725	0.953;0.888	D	0.92572	0.6067	10	0.87932	D	0	.	16.6406	0.85098	1.0:0.0:0.0:0.0	.	1081;763	Q86UK0;Q86UK0-2	ABCAC_HUMAN;.	T	1081;763	ENSP00000272895:I1081T;ENSP00000374312:I763T	ENSP00000272895:I1081T	I	-	2	0	ABCA12	215570716	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.711000	0.91396	2.326000	0.78906	0.533000	0.62120	ATA		0.368	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337111.1	NM_173076	
NGEF	25791	broad.mit.edu	37	2	233756087	233756087	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:233756087C>T	ENST00000264051.3	-	8	1531	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	NGEF_ENST00000373552.4_Missense_Mutation_p.R326H|NGEF_ENST00000539537.1_Missense_Mutation_p.R141H	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	418	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.R418H(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CAGCTTGAGGCGTGTGATCCT	0.617																																					p.R326H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G977A	2						.						102.0	98.0	100.0					2																	233756087		2203	4300	6503	233464331	SO:0001583	missense	25791	exon6			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1253G>A	2.37:g.233756087C>T	ENSP00000264051:p.Arg418His		233464331	NM_001114090	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	C	36	5.752610	0.96890	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63	6.07	6.07	0.98685	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.88894	0.6561	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	0.973;1.0	P;D	0.91635	0.808;0.999	D	0.90169	0.4234	10	0.87932	D	0	-29.0592	20.6439	0.99570	0.0:1.0:0.0:0.0	.	326;418	E9PC42;Q8N5V2	.;NGEF_HUMAN	H	418;326;308;141;141;141	ENSP00000264051:R418H;ENSP00000362653:R326H;ENSP00000439035:R141H;ENSP00000401063:R141H;ENSP00000412614:R141H	ENSP00000264051:R418H	R	-	2	0	NGEF	233464331	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.398000	0.79919	2.884000	0.98904	0.655000	0.94253	CGC		0.617	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799	
AGBL5	60509	broad.mit.edu	37	2	27278095	27278095	+	Silent	SNP	C	C	T	rs375903966		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:27278095C>T	ENST00000360131.4	+	6	1041	c.882C>T	c.(880-882)ccC>ccT	p.P294P	RP11-503P10.1_ENST00000607407.1_RNA|AGBL5_ENST00000323064.8_Silent_p.P294P	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	294					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.P294P(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTGAACCCCGATGGTGTGG	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		19659	0.0		0.0	False		,,,				2504	0.001				p.P294P												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C882T	2						.	C	,	1,4405	2.1+/-5.4	0,1,2202	144.0	140.0	142.0		882,882	-12.2	0.5	2		142	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	AGBL5	NM_001035507.2,NM_021831.5	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	294/718,294/887	27278095	1,13005	2203	4300	6503	27131599	SO:0001819	synonymous_variant	60509	exon6			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.882C>T	2.37:g.27278095C>T			27131599	NM_001035507	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Silent	SNP	ENST00000360131.4	37	CCDS1732.3																																																																																				0.552	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309033.1	NM_021831	
COL6A3	1293	broad.mit.edu	37	2	238280390	238280390	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr2:238280390G>A	ENST00000295550.4	-	9	4722	c.4270C>T	c.(4270-4272)Cgc>Tgc	p.R1424C	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1223C|COL6A3_ENST00000472056.1_Missense_Mutation_p.R817C|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1218C|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1224C|COL6A3_ENST00000392003.2_Missense_Mutation_p.R1017C|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1218C|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1218C	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1424	Nonhelical region.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.R1424C(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTGGATAGCGAGTGCTGGCT	0.542																																					p.R817C												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2449T	2						.						77.0	82.0	80.0					2																	238280390		2203	4300	6503	237945129	SO:0001583	missense	1293	exon6			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.4270C>T	2.37:g.238280390G>A	ENSP00000295550:p.Arg1424Cys		237945129	NM_057166	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	14.72	2.619700	0.46736	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358;ENST00000392004;ENST00000392003	T;T;T;T;T;T;T;T	0.77620	-1.11;-1.11;-1.11;-1.11;-1.11;-1.11;0.15;0.0	5.64	2.69	0.31865	.	0.964932	0.08505	N	0.935796	T	0.77538	0.4145	N	0.24115	0.695	0.09310	N	1	D;P;P;D;P	0.71674	0.998;0.918;0.843;0.998;0.824	P;B;B;P;B	0.61800	0.872;0.368;0.368;0.894;0.17	T	0.64058	-0.6496	10	0.36615	T	0.2	.	9.6334	0.39793	0.0:0.1257:0.4425:0.4318	.	817;1017;1218;1218;1424	E9PFQ6;A8MT30;E9PGQ9;P12111-2;P12111	.;.;.;.;CO6A3_HUMAN	C	1424;1223;1218;817;1218;1224;1218;1017	ENSP00000295550:R1424C;ENSP00000315609:R1223C;ENSP00000315873:R1218C;ENSP00000418285:R817C;ENSP00000386844:R1218C;ENSP00000295546:R1224C;ENSP00000375861:R1218C;ENSP00000375860:R1017C	ENSP00000295550:R1424C	R	-	1	0	COL6A3	237945129	0.000000	0.05858	0.000000	0.03702	0.039000	0.13416	0.142000	0.16096	0.246000	0.21394	0.650000	0.86243	CGC		0.542	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369	
NFKBIZ	64332	broad.mit.edu	37	3	101571997	101571998	+	Frame_Shift_Ins	INS	-	-	C			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	-	-	-	C	-	-	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr3:101571997_101571998insC	ENST00000326172.5	+	5	742_743	c.627_628insC	c.(628-630)cagfs	p.Q210fs	NFKBIZ_ENST00000394054.2_Frame_Shift_Ins_p.Q110fs|NFKBIZ_ENST00000326151.5_Frame_Shift_Ins_p.Q210fs	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	210					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.Q210fs*6(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATGAACCCAAACAGGAGAGCAG	0.48																																					p.K209fs												.	.	1	Insertion - Frameshift(1)	large_intestine(1)	c.627_628insC	3						.																																			103054688	SO:0001589	frameshift_variant	64332	exon5			AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.628dupC	3.37:g.101571998_101571998dupC	ENSP00000325663:p.Gln210fs		103054687	NM_031419	B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Frame_Shift_Ins	INS	ENST00000326172.5	37	CCDS2946.1																																																																																				0.480	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419	
C3orf27	23434	broad.mit.edu	37	3	128292497	128292497	+	Missense_Mutation	SNP	C	C	T	rs141693917		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr3:128292497C>T	ENST00000356020.2	-	3	1042	c.76G>A	c.(76-78)Gtc>Atc	p.V26I		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	26								p.V26I(2)		large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		AGGCGGGAGACGCTGAGTCTA	0.592																																					p.V26I												.	.	2	Substitution - Missense(2)	large_intestine(1)|lung(1)	c.G76A	3						.	C	ILE/VAL	0,4402		0,0,2201	28.0	29.0	29.0		76	-1.2	0.0	3	dbSNP_134	29	1,8597		0,1,4298	no	missense	C3orf27	NM_007354.2	29	0,1,6499	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	26/150	128292497	1,12999	2201	4299	6500	129775187	SO:0001583	missense	23434	exon3			AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.76G>A	3.37:g.128292497C>T	ENSP00000348302:p.Val26Ile		129775187	NM_007354		Missense_Mutation	SNP	ENST00000356020.2	37	CCDS3050.1	.	.	.	.	.	.	.	.	.	.	C	9.932	1.215195	0.22373	0.0	1.16E-4	ENSG00000198685	ENST00000356020	.	.	.	2.35	-1.23	0.09465	.	.	.	.	.	T	0.11750	0.0286	N	0.08118	0	0.09310	N	1	P	0.39404	0.672	B	0.29942	0.109	T	0.16158	-1.0412	8	0.87932	D	0	.	6.0846	0.19960	0.157:0.6855:0.0:0.1575	.	26	O15544	GR6_HUMAN	I	26	.	ENSP00000348302:V26I	V	-	1	0	C3orf27	129775187	0.000000	0.05858	0.001000	0.08648	0.388000	0.30384	-0.996000	0.03709	-0.054000	0.13266	0.313000	0.20887	GTC		0.592	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356924.1	NM_007354	
NLGN1	22871	broad.mit.edu	37	3	173997307	173997307	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr3:173997307G>A	ENST00000457714.1	+	6	1945	c.1516G>A	c.(1516-1518)Gga>Aga	p.G506R	NLGN1_ENST00000361589.4_Missense_Mutation_p.G506R|NLGN1_ENST00000401917.3_Missense_Mutation_p.G546R|NLGN1_ENST00000545397.1_Missense_Mutation_p.G506R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	523					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.G506R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TGCAGCCCACGGAGACGAGGT	0.468																																					p.G506R												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1516A	3						.						60.0	57.0	58.0					3																	173997307		2203	4300	6503	175480001	SO:0001583	missense	22871	exon6			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.1516G>A	3.37:g.173997307G>A	ENSP00000392500:p.Gly506Arg		175480001	NM_014932	Q9UPT2	Missense_Mutation	SNP	ENST00000457714.1	37	CCDS3222.1	.	.	.	.	.	.	.	.	.	.	G	25.9	4.685534	0.88639	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000545397;ENST00000401917	T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.91143	0.7211	H	0.98218	4.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.93202	0.6592	10	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	546;506	D2X2H5;Q8N2Q7-2	.;.	R	506;506;506;546	ENSP00000392500:G506R;ENSP00000354541:G506R;ENSP00000441108:G506R;ENSP00000385750:G546R	ENSP00000354541:G506R	G	+	1	0	NLGN1	175480001	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	GGA		0.468	NLGN1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347054.3	NM_014932	
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											p.E542K	Colon(199;1504 1750 3362 26421 31210 32040)		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	PIK3CA,central_nervous_system,brain,Substitution - Missense,0 	.	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)	c.G1624A	3						.						56.0	56.0	56.0					3																	178936082		1809	4069	5878	180418776	SO:0001583	missense	5290	exon10				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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		180418776	NM_006218	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
LARP1B	55132	broad.mit.edu	37	4	129043237	129043237	+	Missense_Mutation	SNP	G	G	T	rs142360155		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr4:129043237G>T	ENST00000326639.6	+	11	1629	c.1418G>T	c.(1417-1419)cGg>cTg	p.R473L	LARP1B_ENST00000512292.1_Missense_Mutation_p.R473L|LARP1B_ENST00000427266.1_Missense_Mutation_p.R473L|LARP1B_ENST00000441387.1_Missense_Mutation_p.R473L|LARP1B_ENST00000354456.3_5'UTR|LARP1B_ENST00000264584.5_Missense_Mutation_p.R426L	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	473				R -> Q (in Ref. 1; BAC03970). {ECO:0000305}.		nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.R473P(2)|p.R473L(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						CACATGTCTCGGGCAAAAATC	0.388																																					p.R473L												.	.	3	Substitution - Missense(3)	kidney(2)|large_intestine(1)	c.G1418T	4						.						113.0	105.0	108.0					4																	129043237		2203	4300	6503	129262687	SO:0001583	missense	55132	exon11				CCDS3738.1, CCDS47133.1, CCDS64057.1	4q28.2	2009-06-09	2009-06-09	2009-06-09	ENSG00000138709	ENSG00000138709		"""La ribonucleoprotein domain containing"""	24704	protein-coding gene	gene with protein product			"""La ribonucleoprotein domain family, member 2"""	LARP2		12045101	Standard	NM_018078		Approved	FLJ10378, DKFZp434K245, DKFZp686E0316	uc003iga.3	Q659C4	OTTHUMG00000133343	ENST00000326639.6:c.1418G>T	4.37:g.129043237G>T	ENSP00000321997:p.Arg473Leu		129262687	NM_178043	Q2YDB6|Q4W599|Q4W5B2|Q659A0|Q6P5X2|Q7Z3F7|Q86VK7|Q8N6F4|Q8N7H4|Q8NAF2|Q9H5E7|Q9NW12	Missense_Mutation	SNP	ENST00000326639.6	37	CCDS3738.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.161404	0.38119	.	.	ENSG00000138709	ENST00000326639;ENST00000512292;ENST00000508819;ENST00000264584;ENST00000441387;ENST00000427266	T;T;T;T;T;T	0.53640	1.12;0.61;0.64;1.18;1.09;0.63	5.09	-1.77	0.07982	.	0.313899	0.34200	N	0.004170	T	0.58963	0.2159	M	0.84326	2.69	0.36025	D	0.839029	D;P;P	0.58620	0.983;0.771;0.553	P;P;B	0.54238	0.746;0.491;0.138	T	0.68025	-0.5518	10	0.72032	D	0.01	.	11.8238	0.52254	0.5243:0.0:0.4757:0.0	.	426;473;473	D6RJB0;Q659C4;G3XAJ5	.;LAR1B_HUMAN;.	L	473;473;426;426;473;473	ENSP00000321997:R473L;ENSP00000422850:R473L;ENSP00000427281:R426L;ENSP00000264584:R426L;ENSP00000396521:R473L;ENSP00000403586:R473L	ENSP00000264584:R426L	R	+	2	0	LARP1B	129262687	0.224000	0.23674	0.036000	0.18154	0.764000	0.43329	0.504000	0.22626	-0.700000	0.05070	0.585000	0.79938	CGG		0.388	LARP1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257173.2	NM_018078	
TMEM184C	55751	broad.mit.edu	37	4	148554111	148554111	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr4:148554111G>A	ENST00000296582.3	+	8	1411	c.837G>A	c.(835-837)acG>acA	p.T279T	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	279						integral component of membrane (GO:0016021)		p.T279T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						AAAAGCATACGTGGGAATGGC	0.383																																					p.T279T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G837A	4						.						141.0	128.0	133.0					4																	148554111		2203	4300	6503	148773561	SO:0001819	synonymous_variant	55751	exon8			AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.837G>A	4.37:g.148554111G>A			148773561	NM_018241	D3DP04|Q86X84|Q969I7|Q9NXM2	Silent	SNP	ENST00000296582.3	37	CCDS3770.1																																																																																				0.383	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241	
FBXW7	55294	broad.mit.edu	37	4	153247374	153247374	+	Missense_Mutation	SNP	G	G	T	rs138346992		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr4:153247374G>T	ENST00000281708.4	-	10	2657	c.1428C>A	c.(1426-1428)agC>agA	p.S476R	FBXW7_ENST00000603841.1_Missense_Mutation_p.S476R|FBXW7_ENST00000296555.5_Missense_Mutation_p.S358R|FBXW7_ENST00000263981.5_Missense_Mutation_p.S396R|FBXW7_ENST00000603548.1_Missense_Mutation_p.S476R|FBXW7_ENST00000393956.3_Missense_Mutation_p.S300R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	476					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.S476R(2)|p.S237R(1)|p.S396R(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CTCGAGAACCGCTAACAACTC	0.388			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																p.S396R			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	.	.	5	Substitution - Missense(4)|Unknown(1)	large_intestine(4)|haematopoietic_and_lymphoid_tissue(1)	c.C1188A	4						.						73.0	69.0	70.0					4																	153247374		2203	4299	6502	153466824	SO:0001583	missense	55294	exon9			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1428C>A	4.37:g.153247374G>T	ENSP00000281708:p.Ser476Arg		153466824	NM_018315	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376675	0.61735	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.72	0.795	0.18643	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.076346	0.85682	D	0.000000	D	0.88901	0.6563	H	0.99156	4.45	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.998;0.999	D	0.88025	0.2771	10	0.87932	D	0	-17.3918	9.4301	0.38604	0.5392:0.0:0.4608:0.0	.	300;476;358;396	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	R	476;358;396;300	ENSP00000281708:S476R;ENSP00000296555:S358R;ENSP00000263981:S396R;ENSP00000377528:S300R	ENSP00000263981:S396R	S	-	3	2	FBXW7	153466824	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	1.426000	0.34870	0.106000	0.17784	0.650000	0.86243	AGC		0.388	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
JAKMIP1	152789	broad.mit.edu	37	4	6037747	6037747	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr4:6037747G>A	ENST00000409021.3	-	19	2712	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.R570W	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	110					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)	p.R755W(1)		NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGGTCCTCCCGCTGGCCCTCG	0.667																																					p.R755W												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C2263T	4						.						10.0	14.0	13.0					4																	6037747		2085	4125	6210	6088648	SO:0001583	missense	152789	exon19			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2263C>T	4.37:g.6037747G>A	ENSP00000386711:p.Arg755Trp		6088648	NM_001099433	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000409021.3	37	CCDS47005.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.49|18.49	3.635033|3.635033	0.67130|0.67130	.|.	.|.	ENSG00000152969|ENSG00000152969	ENST00000425341|ENST00000409021;ENST00000409371	.|T;T	.|0.35605	.|1.71;1.3	4.79|4.79	2.89|2.89	0.33648|0.33648	.|.	.|0.000000	.|0.53938	.|U	.|0.000048	.|T	.|0.57021	.|0.2025	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.67548	.|0.952;0.952	.|T	.|0.62412	.|-0.6860	.|9	.|0.66056	.|D	.|0.02	.|.	12.2515|12.2515	0.54601|0.54601	0.0:0.0:0.5004:0.4996|0.0:0.0:0.5004:0.4996	.|.	.|570;755	.|Q96N16-5;Q96N16-2	.|.;.	.|W	-1|755;570	.|ENSP00000386711:R755W;ENSP00000387042:R570W	.|ENSP00000386711:R755W	.|R	-|-	.|1	.|2	JAKMIP1|JAKMIP1	6088648|6088648	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	1.668000|1.668000	0.37481|0.37481	0.983000|0.983000	0.38602|0.38602	0.436000|0.436000	0.28706|0.28706	.|CGG		0.667	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329747.1	NM_144720	
HELQ	113510	broad.mit.edu	37	4	84374580	84374580	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr4:84374580G>A	ENST00000295488.3	-	2	978	c.816C>T	c.(814-816)gcC>gcT	p.A272A	MRPS18C_ENST00000507349.1_5'Flank|HELQ_ENST00000510985.1_Silent_p.A272A|MRPS18C_ENST00000295491.4_5'Flank|MRPS18C_ENST00000507019.1_5'Flank|HELQ_ENST00000440639.2_5'Flank	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	272					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.A272A(1)		breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						TTCCAGTCATGGCATTTTTTA	0.383								Other identified genes with known or suspected DNA repair function																													p.A272A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C816T	4						.						176.0	180.0	179.0					4																	84374580		2203	4300	6503	84593604	SO:0001819	synonymous_variant	113510	exon2			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.816C>T	4.37:g.84374580G>A			84593604	NM_133636	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Silent	SNP	ENST00000295488.3	37	CCDS3603.1																																																																																				0.383	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636	
FAT1	2195	broad.mit.edu	37	4	187534433	187534433	+	Missense_Mutation	SNP	C	C	G			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr4:187534433C>G	ENST00000441802.2	-	13	9502	c.9293G>C	c.(9292-9294)aGg>aCg	p.R3098T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3098	Cadherin 28. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R3098T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATCTGTGGCCCTGACGAGAAG	0.468										HNSCC(5;0.00058)																											p.R3098T	Colon(197;1040 2055 4143 4984 49344)											.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G9293C	4						.						92.0	96.0	95.0					4																	187534433		2044	4174	6218	187771427	SO:0001583	missense	2195	exon13			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.9293G>C	4.37:g.187534433C>G	ENSP00000406229:p.Arg3098Thr		187771427	NM_005245		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	C	12.85	2.060831	0.36373	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.01272	5.07	5.19	2.54	0.30619	Cadherin (4);Cadherin-like (1);	0.169666	0.51477	D	0.000100	T	0.01353	0.0044	L	0.37561	1.115	0.38015	D	0.934657	B	0.30211	0.273	B	0.33254	0.16	T	0.58261	-0.7667	10	0.13470	T	0.59	.	6.8565	0.24044	0.0:0.0923:0.1426:0.7651	.	3098	Q14517	FAT1_HUMAN	T	3098;3100	ENSP00000406229:R3098T	ENSP00000260147:R3100T	R	-	2	0	FAT1	187771427	0.995000	0.38212	0.998000	0.56505	0.591000	0.36615	2.346000	0.44027	0.314000	0.23086	-0.466000	0.05196	AGG		0.468	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
DTWD2	285605	broad.mit.edu	37	5	118280284	118280284	+	Silent	SNP	G	G	A	rs368362806		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr5:118280284G>A	ENST00000510708.1	-	2	312	c.279C>T	c.(277-279)acC>acT	p.T93T	DTWD2_ENST00000515439.3_Silent_p.T93T|DTWD2_ENST00000304058.4_Silent_p.T27T	NM_173666.2	NP_775937.1	Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	93								p.T93T(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		TGTACAAGTGGGTAGAGATAT	0.373																																					p.T93T												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C279T	5						.	G		1,4403	2.1+/-5.4	0,1,2201	117.0	125.0	122.0		279	-2.0	0.5	5		122	0,8600		0,0,4300	no	coding-synonymous	DTWD2	NM_173666.2		0,1,6501	AA,AG,GG		0.0,0.0227,0.0077		93/299	118280284	1,13003	2202	4300	6502	118308183	SO:0001819	synonymous_variant	285605	exon2				CCDS34216.1	5q23.1	2008-02-05			ENSG00000169570	ENSG00000169570			19334	protein-coding gene	gene with protein product							Standard	NM_173666		Approved	FLJ33977	uc003ksa.3	Q8NBA8	OTTHUMG00000162956	ENST00000510708.1:c.279C>T	5.37:g.118280284G>A			118308183	NM_173666		Silent	SNP	ENST00000510708.1	37	CCDS34216.1																																																																																				0.373	DTWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371167.2	NM_173666	
TRIO	7204	broad.mit.edu	37	5	14369577	14369577	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr5:14369577A>C	ENST00000344204.4	+	18	3185	c.3161A>C	c.(3160-3162)gAc>gCc	p.D1054A	TRIO_ENST00000537187.1_Missense_Mutation_p.D1054A|TRIO_ENST00000509967.2_Missense_Mutation_p.D1005A	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1054					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D1054A(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCTGAGACGGACCACGTGACG	0.602																																					p.D1054A												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A3161C	5						.						104.0	99.0	101.0					5																	14369577		2203	4300	6503	14422577	SO:0001583	missense	7204	exon18			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.3161A>C	5.37:g.14369577A>C	ENSP00000339299:p.Asp1054Ala		14422577	NM_007118	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	ENST00000344204.4	37	CCDS3883.1	.	.	.	.	.	.	.	.	.	.	A	12.99	2.102409	0.37145	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.64085	-0.08;-0.08;0.55	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	T	0.70465	0.3227	L	0.36672	1.1	0.80722	D	1	P;P;D	0.76494	0.846;0.936;0.999	P;P;D	0.80764	0.508;0.755;0.994	T	0.66933	-0.5798	10	0.26408	T	0.33	.	16.2147	0.82198	1.0:0.0:0.0:0.0	.	1005;1054;1054	F5H228;O75962-5;O75962	.;.;TRIO_HUMAN	A	1054;1054;1005;741	ENSP00000339299:D1054A;ENSP00000446348:D1054A;ENSP00000445592:D1005A	ENSP00000339299:D1054A	D	+	2	0	TRIO	14422577	1.000000	0.71417	0.996000	0.52242	0.157000	0.22087	9.339000	0.96797	2.231000	0.72958	0.460000	0.39030	GAC		0.602	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253711.2	NM_007118	
PCDHB12	56124	broad.mit.edu	37	5	140589706	140589706	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr5:140589706G>A	ENST00000239450.2	+	1	1416	c.1227G>A	c.(1225-1227)ctG>ctA	p.L409L	PCDHB12_ENST00000541609.1_Silent_p.L72L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	409	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L409L(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGAGACCGCTGGACAGAGAGA	0.507																																					p.L409L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G1227A	5						.						83.0	83.0	83.0					5																	140589706		2203	4300	6503	140569890	SO:0001819	synonymous_variant	56124	exon1			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1227G>A	5.37:g.140589706G>A			140569890	NM_018932	B4DDU1	Silent	SNP	ENST00000239450.2	37	CCDS4254.1																																																																																				0.507	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932	
WWC1	23286	broad.mit.edu	37	5	167812356	167812356	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr5:167812356G>T	ENST00000265293.4	+	3	872	c.370G>T	c.(370-372)Gca>Tca	p.A124S	WWC1_ENST00000521089.1_Missense_Mutation_p.A124S	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	124					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)	p.A124S(1)		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)		CCTGGAGCTTGCACAGCAGGA	0.592																																					p.A124S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G370T	5						.						90.0	91.0	90.0					5																	167812356		2203	4300	6503	167744934	SO:0001583	missense	23286	exon3			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.370G>T	5.37:g.167812356G>T	ENSP00000265293:p.Ala124Ser		167744934	NM_001161661	B4DK05|O94946|Q6MZX4|Q6Y2F8|Q7Z4G8|Q8WVM4|Q9BT29	Missense_Mutation	SNP	ENST00000265293.4	37	CCDS4366.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	33|33	5.217273|5.217273	0.95104|0.95104	.|.	.|.	ENSG00000113645|ENSG00000113645	ENST00000265293;ENST00000521089|ENST00000393895	T;T|.	0.06687|.	3.28;3.27|.	5.62|5.62	5.62|5.62	0.85841|0.85841	.|.	0.000000|.	0.64402|.	D|.	0.000004|.	D|D	0.83330|0.83330	0.5231|0.5231	M|M	0.84948|0.84948	2.725|2.725	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	0.991;1.0;0.999|.	D;D;D|.	0.83275|.	0.975;0.996;0.993|.	D|D	0.84286|0.84286	0.0497|0.0497	10|5	0.62326|.	D|.	0.03|.	.|.	19.6523|19.6523	0.95822|0.95822	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	124;30;124|.	Q8IX03-2;B3KX05;Q8IX03|.	.;.;KIBRA_HUMAN|.	S|F	124|85	ENSP00000265293:A124S;ENSP00000427772:A124S|.	ENSP00000265293:A124S|.	A|C	+|+	1|2	0|0	WWC1|WWC1	167744934|167744934	1.000000|1.000000	0.71417|0.71417	0.185000|0.185000	0.23176|0.23176	0.987000|0.987000	0.75469|0.75469	9.576000|9.576000	0.98192|0.98192	2.650000|2.650000	0.89964|0.89964	0.561000|0.561000	0.74099|0.74099	GCA|TGC		0.592	WWC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252791.2	NM_015238	
SEMA5A	9037	broad.mit.edu	37	5	9063103	9063103	+	Missense_Mutation	SNP	C	C	T	rs143717547		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr5:9063103C>T	ENST00000382496.5	-	18	3079	c.2414G>A	c.(2413-2415)cGg>cAg	p.R805Q		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	805	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|blood vessel endothelial cell proliferation involved in sprouting angiogenesis (GO:0002043)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|diencephalon development (GO:0021536)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|nervous system development (GO:0007399)|patterning of blood vessels (GO:0001569)|positive chemotaxis (GO:0050918)|positive regulation of actin filament depolymerization (GO:0030836)|positive regulation of angiogenesis (GO:0045766)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein kinase B signaling (GO:0051897)|signal clustering (GO:1990256)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|chondroitin sulfate proteoglycan binding (GO:0035373)|heparan sulfate proteoglycan binding (GO:0043395)|semaphorin receptor binding (GO:0030215)|syndecan binding (GO:0045545)	p.R805Q(1)		biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						CTTCCGGTTCCGAATGCCCCT	0.587																																					p.R805Q												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G2414A	5						.	C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	95.0	76.0	82.0		2414	5.7	1.0	5	dbSNP_134	82	0,8600		0,0,4300	no	missense	SEMA5A	NM_003966.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	805/1075	9063103	1,13005	2203	4300	6503	9116103	SO:0001583	missense	9037	exon18			U52840	CCDS3875.1	5p15.2	2008-05-15			ENSG00000112902	ENSG00000112902		"""Semaphorins"""	10736	protein-coding gene	gene with protein product		609297		SEMAF		8817451, 9464278	Standard	NM_003966		Approved	semF	uc003jek.2	Q13591	OTTHUMG00000090501	ENST00000382496.5:c.2414G>A	5.37:g.9063103C>T	ENSP00000371936:p.Arg805Gln		9116103	NM_003966	D3DTC6|O60408|Q1RLL9	Missense_Mutation	SNP	ENST00000382496.5	37	CCDS3875.1	.	.	.	.	.	.	.	.	.	.	C	21.4	4.136888	0.77662	2.27E-4	0.0	ENSG00000112902	ENST00000382496	T	0.52754	0.65	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.49762	0.1576	N	0.13327	0.33	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.37337	-0.9710	10	0.10636	T	0.68	.	17.2182	0.86950	0.0:1.0:0.0:0.0	.	805	Q13591	SEM5A_HUMAN	Q	805	ENSP00000371936:R805Q	ENSP00000371936:R805Q	R	-	2	0	SEMA5A	9116103	1.000000	0.71417	0.998000	0.56505	0.999000	0.98932	7.573000	0.82421	2.659000	0.90383	0.655000	0.94253	CGG		0.587	SEMA5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206989.2		
C5orf22	55322	broad.mit.edu	37	5	31552951	31552951	+	Missense_Mutation	SNP	G	G	A	rs139349218	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr5:31552951G>A	ENST00000325366.9	+	9	1398	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	C5orf22_ENST00000355907.3_Missense_Mutation_p.R145H|C5orf22_ENST00000504866.1_3'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	424								p.R424H(1)		kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AATATGCTACGTGCCCTCTAT	0.408													G|||	4	0.000798722	0.0008	0.0	5008	,	,		19256	0.0		0.003	False		,,,				2504	0.0				p.R424H												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1271A	5						.	G	HIS/ARG	12,4394	19.1+/-41.9	0,12,2191	125.0	113.0	117.0		1271	-2.6	0.0	5	dbSNP_134	117	11,8589	8.4+/-32.0	0,11,4289	yes	missense	C5orf22	NM_018356.2	29	0,23,6480	AA,AG,GG		0.1279,0.2724,0.1768	benign	424/443	31552951	23,12983	2203	4300	6503	31588708	SO:0001583	missense	55322	exon9			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.1271G>A	5.37:g.31552951G>A	ENSP00000326879:p.Arg424His		31588708	NM_018356	Q8ND28|Q8WU61|Q9NUR1	Missense_Mutation	SNP	ENST00000325366.9	37	CCDS3895.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	G	12.54	1.968347	0.34754	0.002724	0.001279	ENSG00000082213	ENST00000325366;ENST00000355907;ENST00000543911	T;T	0.49432	1.46;0.78	5.73	-2.58	0.06228	.	0.696627	0.15682	N	0.249850	T	0.24275	0.0588	N	0.20401	0.57	0.09310	N	1	P;B	0.39903	0.694;0.002	B;B	0.27715	0.082;0.001	T	0.09443	-1.0674	10	0.35671	T	0.21	0.3156	13.2238	0.59903	0.4454:0.0:0.5546:0.0	.	145;424	Q49AR2-3;Q49AR2	.;CE022_HUMAN	H	424;145;159	ENSP00000326879:R424H;ENSP00000348171:R145H	ENSP00000326879:R424H	R	+	2	0	C5orf22	31588708	0.000000	0.05858	0.001000	0.08648	0.168000	0.22595	-0.134000	0.10436	-0.409000	0.07553	0.655000	0.94253	CGT		0.408	C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356	
MEF2C	4208	broad.mit.edu	37	5	88057095	88057095	+	Silent	SNP	C	C	T	rs567797470	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr5:88057095C>T	ENST00000437473.2	-	4	726	c.309G>A	c.(307-309)gcG>gcA	p.A103A	MEF2C_ENST00000539796.1_Intron|MEF2C_ENST00000510942.1_Silent_p.A103A|MEF2C_ENST00000508569.1_Silent_p.A103A|MEF2C_ENST00000340208.5_Silent_p.A103A|MEF2C_ENST00000503554.1_5'UTR|MEF2C_ENST00000424173.2_Intron|MEF2C_ENST00000504921.2_Silent_p.A103A|MEF2C_ENST00000514015.1_Silent_p.A103A|MEF2C_ENST00000506554.1_Silent_p.A103A|MEF2C_ENST00000514028.1_Silent_p.A103A	NM_001193350.1|NM_002397.4	NP_001180279.1|NP_002388.2	Q06413	MEF2C_HUMAN	myocyte enhancer factor 2C	103					apoptotic process (GO:0006915)|B cell homeostasis (GO:0001782)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac ventricle formation (GO:0003211)|cartilage morphogenesis (GO:0060536)|cell morphogenesis involved in neuron differentiation (GO:0048667)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|cellular response to fluid shear stress (GO:0071498)|cellular response to glucose stimulus (GO:0071333)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to parathyroid hormone stimulus (GO:0071374)|cellular response to retinoic acid (GO:0071300)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to trichostatin A (GO:0035984)|chondrocyte differentiation (GO:0002062)|dentate gyrus development (GO:0021542)|embryonic viscerocranium morphogenesis (GO:0048703)|endochondral ossification (GO:0001958)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|germinal center formation (GO:0002467)|glomerulus morphogenesis (GO:0072102)|heart development (GO:0007507)|heart looping (GO:0001947)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|MAPK cascade (GO:0000165)|melanocyte differentiation (GO:0030318)|monocyte differentiation (GO:0030224)|muscle cell differentiation (GO:0042692)|muscle cell fate determination (GO:0007521)|muscle organ development (GO:0007517)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myotube differentiation (GO:0014902)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nephron tubule epithelial cell differentiation (GO:0072160)|nervous system development (GO:0007399)|neural crest cell differentiation (GO:0014033)|neuron development (GO:0048666)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoblast differentiation (GO:0001649)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|platelet formation (GO:0030220)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of behavioral fear response (GO:2000987)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation in bone marrow (GO:0071864)|positive regulation of gene expression (GO:0010628)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of skeletal muscle cell differentiation (GO:2001016)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primary heart field specification (GO:0003138)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of dendritic spine development (GO:0060998)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of germinal center formation (GO:0002634)|regulation of megakaryocyte differentiation (GO:0045652)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron apoptotic process (GO:0043523)|regulation of neurotransmitter secretion (GO:0046928)|regulation of sarcomere organization (GO:0060297)|regulation of synapse assembly (GO:0051963)|regulation of synaptic activity (GO:0060025)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|renal tubule morphogenesis (GO:0061333)|response to ischemia (GO:0002931)|response to virus (GO:0009615)|response to vitamin E (GO:0033197)|secondary heart field specification (GO:0003139)|sinoatrial valve morphogenesis (GO:0003185)|skeletal muscle tissue development (GO:0007519)|smooth muscle cell differentiation (GO:0051145)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ventricular cardiac muscle cell differentiation (GO:0055012)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|sarcomere (GO:0030017)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|protein heterodimerization activity (GO:0046982)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity (GO:0000983)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.A103A(1)		breast(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	40		all_cancers(142;6.67e-05)|all_epithelial(76;7.77e-07)|Lung NSC(167;0.00566)|all_lung(232;0.00732)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;1.04e-33)|Epithelial(54;1.6e-28)|all cancers(79;2.9e-25)		CGGAATCGTCCGCATCGGGGT	0.438										HNSCC(66;0.2)			C|||	2	0.000399361	0.0	0.0	5008	,	,		17179	0.0		0.001	False		,,,				2504	0.001				p.A103A												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G309A	5						.						123.0	121.0	121.0					5																	88057095		1891	4116	6007	88092851	SO:0001819	synonymous_variant	4208	exon4			AL833268	CCDS47244.1, CCDS47245.1, CCDS54877.1, CCDS54878.1	5q14.3	2013-07-03	2007-04-24		ENSG00000081189	ENSG00000081189		"""Myocyte enhancer factors"""	6996	protein-coding gene	gene with protein product		600662				8455629	Standard	NM_002397		Approved		uc003kjl.3	Q06413	OTTHUMG00000162634	ENST00000437473.2:c.309G>A	5.37:g.88057095C>T			88092851	NM_001193350	C9JMZ0|D7F7N5|F8W7V7	Silent	SNP	ENST00000437473.2	37	CCDS47245.1																																																																																				0.438	MEF2C-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000369817.1	NM_002397	
MCTP1	79772	broad.mit.edu	37	5	94275798	94275798	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr5:94275798G>T	ENST00000515393.1	-	5	1162	c.1163C>A	c.(1162-1164)tCc>tAc	p.S388Y	MCTP1_ENST00000505208.1_Missense_Mutation_p.S167Y|MCTP1_ENST00000312216.8_Missense_Mutation_p.S167Y|MCTP1_ENST00000429576.2_Missense_Mutation_p.S167Y	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	388					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)	p.S388Y(1)		breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		CACATCCCTGGACTCTCCTTC	0.453																																					p.S167Y												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C500A	5						.						163.0	164.0	164.0					5																	94275798		2203	4300	6503	94301554	SO:0001583	missense	79772	exon5				CCDS34203.1, CCDS47247.1, CCDS75275.1	5q15	2008-02-05			ENSG00000175471	ENSG00000175471			26183	protein-coding gene	gene with protein product						15528213	Standard	XM_005272082		Approved	FLJ22344	uc003kkx.2	Q6DN14	OTTHUMG00000162742	ENST00000515393.1:c.1163C>A	5.37:g.94275798G>T	ENSP00000424126:p.Ser388Tyr		94301554	NM_001002796	Q6DN13|Q8N2W1|Q8NBA2|Q96LX0|Q9H6E8	Missense_Mutation	SNP	ENST00000515393.1	37	CCDS34203.1	.	.	.	.	.	.	.	.	.	.	G	12.13	1.845018	0.32606	.	.	ENSG00000175471	ENST00000515393;ENST00000429576;ENST00000312216;ENST00000508509;ENST00000512425;ENST00000505208;ENST00000506568;ENST00000415885;ENST00000507214;ENST00000514780	T;T;T;T;T;T;T;T;T	0.78364	-1.12;-0.9;-1.0;-0.85;-0.93;-1.1;-0.76;-1.07;-1.17	5.74	0.862	0.19056	.	1.114570	0.06390	N	0.716833	T	0.55401	0.1918	N	0.14661	0.345	0.21740	N	0.999569	B;B;B	0.33103	0.172;0.397;0.008	B;B;B	0.32980	0.096;0.156;0.038	T	0.46871	-0.9160	10	0.02654	T	1	9.1097	5.2077	0.15299	0.0844:0.0843:0.1999:0.6314	.	388;167;167	Q6DN14;Q6DN14-3;Q6DN14-2	MCTP1_HUMAN;.;.	Y	388;167;167;167;49;167;28;129;149;148	ENSP00000424126:S388Y;ENSP00000391639:S167Y;ENSP00000308957:S167Y;ENSP00000423410:S167Y;ENSP00000431075:S49Y;ENSP00000426438:S167Y;ENSP00000426294:S28Y;ENSP00000424936:S149Y;ENSP00000421543:S148Y	ENSP00000308957:S167Y	S	-	2	0	MCTP1	94301554	0.998000	0.40836	0.985000	0.45067	0.992000	0.81027	1.924000	0.40065	0.330000	0.23485	0.563000	0.77884	TCC		0.453	MCTP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370280.3	NM_024717	
APC	324	broad.mit.edu	37	5	112174448	112174448	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	A	A	A	A	A	A	Unknown	Wildtype	None	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr5:112174448delA	ENST00000457016.1	+	16	3537	c.3157delA	c.(3157-3159)aaafs	p.K1053fs	APC_ENST00000257430.4_Frame_Shift_Del_p.K1053fs|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Frame_Shift_Del_p.K1053fs			P25054	APC_HUMAN	adenomatous polyposis coli	1053	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GGCAAGACCCAAACACATAAT	0.343		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											p.K1035fs	NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	.	.	1	Unknown(1)	skin(1)	c.3103delA	5						.						65.0	64.0	64.0					5																	112174448		2202	4300	6502	112202347	SO:0001589	frameshift_variant	324	exon14	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3157delA	5.37:g.112174448delA	ENSP00000413133:p.Lys1053fs		112202347	NM_001127511	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				0.343	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
HRH2	3274	broad.mit.edu	37	5	175110302	175110302	+	Silent	SNP	C	C	T	rs139350514	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr5:175110302C>T	ENST00000231683.2	+	1	1839	c.66C>T	c.(64-66)acC>acT	p.T22T	HRH2_ENST00000377291.2_Silent_p.T22T	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	22					digestive tract development (GO:0048565)|epithelial cell morphogenesis (GO:0003382)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|gastrin-induced gastric acid secretion (GO:0001698)|gland development (GO:0048732)|histamine-induced gastric acid secretion (GO:0001697)|immune response (GO:0006955)|memory (GO:0007613)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)	p.T22T(2)		breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Amitriptyline(DB00321)|Asenapine(DB06216)|Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Methantheline(DB00940)|Nizatidine(DB00585)|Olanzapine(DB00334)|Ranitidine(DB00863)|Roxatidine acetate(DB08806)|Tolazoline(DB00797)	TCACCATCACCGTGGTCCTTG	0.592																																					p.T22T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C66T	5						.						238.0	212.0	221.0					5																	175110302		2203	4300	6503	175042908	SO:0001819	synonymous_variant	3274	exon1				CCDS4395.1, CCDS47344.1	5q35	2012-08-08			ENSG00000113749	ENSG00000113749		"""GPCR / Class A : Histamine receptors"""	5183	protein-coding gene	gene with protein product		142703				1714721	Standard	NM_022304		Approved		uc003mdc.4	P25021	OTTHUMG00000130660	ENST00000231683.2:c.66C>T	5.37:g.175110302C>T			175042908	NM_022304	B5BUP7|Q14464|Q7Z5R9	Silent	SNP	ENST00000231683.2	37	CCDS4395.1																																																																																				0.592	HRH2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253151.1		
HIST1H2AB	8335	broad.mit.edu	37	6	26033496	26033496	+	Missense_Mutation	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr6:26033496C>T	ENST00000259791.2	-	1	300	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	101						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.V101M(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCGATGGTCACACGCCCCAAG	0.547																																					p.V101M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G301A	6						.						75.0	77.0	76.0					6																	26033496		2203	4300	6503	26141475	SO:0001583	missense	8335	exon1			X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.301G>A	6.37:g.26033496C>T	ENSP00000259791:p.Val101Met		26141475	NM_003513	P28001|Q76P63	Missense_Mutation	SNP	ENST00000259791.2	37	CCDS4574.1	.	.	.	.	.	.	.	.	.	.	c	15.62	2.888037	0.52014	.	.	ENSG00000137259	ENST00000259791	T	0.52983	0.64	5.35	5.35	0.76521	Histone-fold (2);Histone H2A (2);	0.000000	0.32015	U	0.006704	T	0.66005	0.2746	.	.	.	0.43259	D	0.995195	D	0.89917	1.0	D	0.78314	0.991	T	0.69785	-0.5051	9	0.87932	D	0	.	18.4224	0.90595	0.0:1.0:0.0:0.0	.	101	P04908	H2A1B_HUMAN	M	101	ENSP00000259791:V101M	ENSP00000259791:V101M	V	-	1	0	HIST1H2AB	26141475	1.000000	0.71417	0.876000	0.34364	0.150000	0.21749	5.959000	0.70339	2.648000	0.89879	0.561000	0.74099	GTG		0.547	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040082.1	NM_003513	
HSPA1L	3305	broad.mit.edu	37	6	31778966	31778966	+	Missense_Mutation	SNP	C	C	T	rs142416335		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr6:31778966C>T	ENST00000375654.4	-	2	973	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	HSPA1L_ENST00000417199.3_Missense_Mutation_p.V262M	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	262					binding of sperm to zona pellucida (GO:0007339)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrial matrix (GO:0005759)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|unfolded protein binding (GO:0051082)	p.V262M(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						AGCCGCCTCACGGCTCGCTTG	0.552																																					p.V262M												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G784A	6						.	C	MET/VAL	0,4406		0,0,2203	58.0	64.0	62.0		784	5.3	1.0	6	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	missense	HSPA1L	NM_005527.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	262/642	31778966	1,13005	2203	4300	6503	31886945	SO:0001583	missense	3305	exon2			D85730	CCDS34413.1	6p21.3	2014-01-21	2002-08-29		ENSG00000204390	ENSG00000204390		"""Heat shock proteins / HSP70"""	5234	protein-coding gene	gene with protein product		140559	"""heat shock 70kD protein-like 1"""			9685725, 9349405	Standard	NM_005527		Approved	HSP70-HOM, hum70t	uc003nxh.3	P34931	OTTHUMG00000031208	ENST00000375654.4:c.784G>A	6.37:g.31778966C>T	ENSP00000364805:p.Val262Met		31886945	NM_005527	A6NNB0|B0UXW8|O75634|Q2HXR3|Q8NE72|Q96QC9|Q9UQM1	Missense_Mutation	SNP	ENST00000375654.4	37	CCDS34413.1	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533662	0.27387	0.0	1.16E-4	ENSG00000204390	ENST00000375654;ENST00000417199;ENST00000375653;ENST00000424494	T;T	0.01015	5.44;5.44	5.26	5.26	0.73747	.	0.000000	0.31697	N	0.007210	T	0.00666	0.0022	N	0.10685	0.025	0.38760	D	0.954313	D	0.63046	0.992	P	0.54372	0.75	T	0.77776	-0.2461	10	0.87932	D	0	0.2032	11.9966	0.53206	0.0:0.8261:0.1739:0.0	.	262	P34931	HS71L_HUMAN	M	262;262;207;152	ENSP00000364805:V262M;ENSP00000387691:V262M	ENSP00000364804:V207M	V	-	1	0	HSPA1L	31886945	0.895000	0.30542	0.960000	0.40013	0.715000	0.41141	1.771000	0.38542	2.741000	0.93983	0.484000	0.47621	GTG		0.552	HSPA1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076416.2		
TNXB	7148	broad.mit.edu	37	6	32015637	32015637	+	Missense_Mutation	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr6:32015637G>A	ENST00000375244.3	-	30	10399	c.10198C>T	c.(10198-10200)Ccg>Tcg	p.P3400S	TNXB_ENST00000375247.2_Missense_Mutation_p.P3398S|TNXB_ENST00000451343.1_5'Flank			P22105	TENX_HUMAN	tenascin XB	3445	Fibronectin type-III 25. {ECO:0000255|PROSITE-ProRule:PRU00316}.				actin cytoskeleton organization (GO:0030036)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|elastic fiber assembly (GO:0048251)|extracellular fibril organization (GO:0043206)|fatty acid metabolic process (GO:0006631)|regulation of JUN kinase activity (GO:0043506)|single organismal cell-cell adhesion (GO:0016337)|triglyceride metabolic process (GO:0006641)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)	p.P3465S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GCTGCCACCGGCACCACCTGG	0.617																																					p.P3398S												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.C10192T	6						.						29.0	37.0	34.0					6																	32015637		1437	2647	4084	32123615	SO:0001583	missense	7148	exon30			X71923	CCDS4736.1	6p21.3	2013-02-11			ENSG00000168477	ENSG00000168477		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11976	protein-coding gene	gene with protein product		600985		TNXB1, TNXB2		8530023	Standard	NM_019105		Approved	TNXBS, XBS, XB	uc021yvf.2	P22105	OTTHUMG00000031088	ENST00000375244.3:c.10198C>T	6.37:g.32015637G>A	ENSP00000364393:p.Pro3400Ser		32123615	NM_019105	P78530|P78531|Q08424|Q08AM0|Q08AM1|Q59GU7|Q5SQD3|Q5ST74|Q7L8Q4|Q8N4R1|Q9NPK9|Q9UC10|Q9UC11|Q9UC12|Q9UC13|Q9UMG7	Missense_Mutation	SNP	ENST00000375244.3	37		.	.	.	.	.	.	.	.	.	.	G	8.195	0.796763	0.16327	.	.	ENSG00000168477	ENST00000375244;ENST00000375247	T;T	0.53857	0.6;0.6	4.76	1.98	0.26296	.	0.137947	0.33753	N	0.004594	T	0.27241	0.0668	L	0.47190	1.495	0.09310	N	1	P	0.39748	0.686	P	0.50136	0.632	T	0.29150	-1.0021	10	0.09590	T	0.72	.	4.9993	0.14257	0.1793:0.0:0.6531:0.1676	.	3398	P22105-3	.	S	3400;3398	ENSP00000364393:P3400S;ENSP00000364396:P3398S	ENSP00000364393:P3400S	P	-	1	0	TNXB	32123615	0.999000	0.42202	0.073000	0.20177	0.001000	0.01503	3.696000	0.54757	0.221000	0.20879	-0.229000	0.12294	CCG		0.617	TNXB-001	PUTATIVE	not_organism_supported|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000268927.2	NM_019105	
TAP1	6890	broad.mit.edu	37	6	32821061	32821061	+	Nonsense_Mutation	SNP	G	G	C			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr6:32821061G>C	ENST00000354258.4	-	1	694	c.533C>G	c.(532-534)tCa>tGa	p.S178*	TAP1_ENST00000425148.2_5'Flank|PSMB9_ENST00000395330.1_Intron|PSMB9_ENST00000374859.2_5'Flank|PSMB9_ENST00000453265.2_5'Flank	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	178					antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytosol to ER transport (GO:0046967)|defense response (GO:0006952)|intracellular transport of viral protein in host cell (GO:0019060)|peptide transport (GO:0015833)|transmembrane transport (GO:0055085)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)|TAP complex (GO:0042825)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|MHC class Ib protein binding (GO:0023029)|peptide antigen binding (GO:0042605)|peptide transporter activity (GO:0015197)|protein homodimerization activity (GO:0042803)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.S178*(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21					Lapatinib(DB01259)	GGCTCCCCATGAGATCAGCTC	0.637																																					p.S178X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C533G	6						.						17.0	13.0	14.0					6																	32821061		1508	2698	4206	32929039	SO:0001587	stop_gained	6890	exon1				CCDS4758.1	6p21.3	2014-09-17			ENSG00000168394	ENSG00000168394		"""ATP binding cassette transporters / subfamily B"""	43	protein-coding gene	gene with protein product		170260		ABCB2		1529427, 1946428	Standard	NM_000593		Approved	PSF1, RING4, D6S114E	uc003ocg.3	Q03518	OTTHUMG00000031067	ENST00000354258.4:c.533C>G	6.37:g.32821061G>C	ENSP00000346206:p.Ser178*		32929039	NM_000593	Q16149|Q96CP4	Nonsense_Mutation	SNP	ENST00000354258.4	37	CCDS4758.1	.	.	.	.	.	.	.	.	.	.	G	34	5.293243	0.95546	.	.	ENSG00000168394	ENST00000354258	.	.	.	4.02	3.1	0.35709	.	0.781295	0.10049	U	0.722469	.	.	.	.	.	.	0.26097	N	0.980872	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	0.5682	9.6112	0.39663	0.0:0.2125:0.7875:0.0	.	.	.	.	X	178	.	ENSP00000346206:S178X	S	-	2	0	TAP1	32929039	0.002000	0.14202	0.058000	0.19502	0.033000	0.12548	0.952000	0.29149	2.065000	0.61736	0.637000	0.83480	TCA		0.637	TAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076087.2	NM_000593	
RIMS1	22999	broad.mit.edu	37	6	72678745	72678745	+	Missense_Mutation	SNP	A	A	C			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr6:72678745A>C	ENST00000521978.1	+	2	224	c.224A>C	c.(223-225)aAc>aCc	p.N75T	RIMS1_ENST00000518273.1_Missense_Mutation_p.N75T|RIMS1_ENST00000520567.1_Missense_Mutation_p.N75T|RIMS1_ENST00000522291.1_Missense_Mutation_p.N75T|RIMS1_ENST00000491071.2_Missense_Mutation_p.N75T|RIMS1_ENST00000264839.7_Missense_Mutation_p.N75T|RIMS1_ENST00000348717.5_Missense_Mutation_p.N75T|RIMS1_ENST00000517960.1_Missense_Mutation_p.N75T	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	75	RabBD. {ECO:0000255|PROSITE- ProRule:PRU00234}.				calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)	p.N75T(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AATGCTGAAAACCAGCCCCAC	0.448																																					p.N75T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A224C	6						.						138.0	142.0	141.0					6																	72678745		1938	4135	6073	72735466	SO:0001583	missense	22999	exon2			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.224A>C	6.37:g.72678745A>C	ENSP00000428417:p.Asn75Thr		72735466	NM_014989	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	ENST00000521978.1	37	CCDS47449.1	.	.	.	.	.	.	.	.	.	.	A	6.343	0.431433	0.12045	.	.	ENSG00000079841	ENST00000491071;ENST00000350827;ENST00000352008;ENST00000348717;ENST00000349908;ENST00000346609;ENST00000264839;ENST00000517960;ENST00000518273;ENST00000520567;ENST00000522291;ENST00000521978	T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	5.31	2.9	0.33743	Zinc finger, RING/FYVE/PHD-type (1);Rab-binding domain (1);Zinc finger, FYVE/PHD-type (1);	.	.	.	.	T	0.06096	0.0158	N	0.14661	0.345	0.80722	D	1	P	0.36110	0.537	B	0.26864	0.074	T	0.22382	-1.0218	9	0.30078	T	0.28	.	4.9909	0.14214	0.7155:0.1865:0.0979:0.0	.	75	Q86UR5	RIMS1_HUMAN	T	75	ENSP00000430101:N75T;ENSP00000275037:N75T;ENSP00000264839:N75T;ENSP00000429959:N75T;ENSP00000430408:N75T;ENSP00000430502:N75T;ENSP00000430932:N75T;ENSP00000428417:N75T	ENSP00000264839:N75T	N	+	2	0	RIMS1	72735466	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.499000	0.22546	0.323000	0.23307	-0.313000	0.08912	AAC		0.448	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374968.1		
GJB7	375519	broad.mit.edu	37	6	87994538	87994538	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr6:87994538G>A	ENST00000525899.1	-	3	438	c.93C>T	c.(91-93)ttC>ttT	p.F31F	GJB7_ENST00000296882.3_Silent_p.F31F	NM_198568.2	NP_940970.1	Q6PEY0	CXB7_HUMAN	gap junction protein, beta 7, 25kDa	31					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.F31F(1)		endometrium(2)|large_intestine(3)	5		all_cancers(76;1.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;7.38e-10)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00323)		BRCA - Breast invasive adenocarcinoma(108;0.0167)		CCAGCAAACGGAAGACAAACA	0.478																																					p.F31F												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.C93T	6						.						104.0	97.0	99.0					6																	87994538		2203	4300	6503	88051257	SO:0001819	synonymous_variant	375519	exon3			AJ414563	CCDS5008.1	6q15	2008-02-05	2007-11-06			ENSG00000164411		"""Ion channels / Gap junction proteins (connexins)"""	16690	protein-coding gene	gene with protein product	"""connexin 25"""	611921	"""gap junction protein, beta 7"""				Standard	NM_198568		Approved	CX25, bA136M9.1	uc003plo.2	Q6PEY0		ENST00000525899.1:c.93C>T	6.37:g.87994538G>A			88051257	NM_198568	B3KXL0|Q96KP0	Silent	SNP	ENST00000525899.1	37	CCDS5008.1																																																																																				0.478	GJB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394780.1		
SOBP	55084	broad.mit.edu	37	6	107827590	107827590	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr6:107827590T>C	ENST00000317357.5	+	3	1039	c.380T>C	c.(379-381)aTt>aCt	p.I127T		NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)									p.I127T(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		GTGCCCATTATTGTACCTTTA	0.428																																					p.I127T												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.T380C	6						.						212.0	202.0	205.0					6																	107827590		1917	4141	6058	107934283	SO:0001583	missense	55084	exon3			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.380T>C	6.37:g.107827590T>C	ENSP00000318900:p.Ile127Thr		107934283	NM_018013		Missense_Mutation	SNP	ENST00000317357.5	37	CCDS43488.1	.	.	.	.	.	.	.	.	.	.	T	17.21	3.332547	0.60853	.	.	ENSG00000112320	ENST00000317357	T	0.21543	2.0	5.24	5.24	0.73138	.	0.061587	0.64402	D	0.000005	T	0.09113	0.0225	L	0.38175	1.15	0.52501	D	0.999953	P	0.46142	0.873	B	0.39660	0.306	T	0.12837	-1.0532	10	0.22109	T	0.4	-7.5457	15.4467	0.75235	0.0:0.0:0.0:1.0	.	127	A7XYQ1	SOBP_HUMAN	T	127	ENSP00000318900:I127T	ENSP00000318900:I127T	I	+	2	0	SOBP	107934283	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.436000	0.80404	2.114000	0.64651	0.533000	0.62120	ATT		0.428	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041693.2	NM_018013	
POR	5447	broad.mit.edu	37	7	75617836	75617837	+	IGR	INS	-	-	G	rs556289067		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr7:75617836_75617837insG	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000338761.4_RNA|TMEM120A_ENST00000493111.2_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	TAGGCAAACCTGGGGGGCGCAG	0.614																																					.												.	.	0			.	7						.																																			75455773	SO:0001628	intergenic_variant	83862	.			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75617842_75617842dupG			75455772	.	Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	Splice_Site	INS	ENST00000461988.1	37	CCDS5579.1																																																																																				0.614	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252796.7	NM_000941	
SLC25A13	10165	broad.mit.edu	37	7	95813649	95813649	+	Missense_Mutation	SNP	T	T	C			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr7:95813649T>C	ENST00000265631.5	-	11	1253	c.1117A>G	c.(1117-1119)Aac>Gac	p.N373D	SLC25A13_ENST00000416240.2_Missense_Mutation_p.N374D|SLC25A13_ENST00000542654.1_Missense_Mutation_p.N265D			Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	373					aspartate transport (GO:0015810)|ATP biosynthetic process (GO:0006754)|carbohydrate metabolic process (GO:0005975)|cellular respiration (GO:0045333)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|transporter activity (GO:0005215)	p.N373D(1)		breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TCAAAGCTGTTTTTATACATG	0.413																																					p.N373D												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.A1117G	7						.						95.0	91.0	92.0					7																	95813649		2203	4300	6503	95651585	SO:0001583	missense	10165	exon11			AF118838	CCDS5645.1, CCDS55130.1	7q21.3	2013-05-22	2012-03-29		ENSG00000004864	ENSG00000004864		"""Solute carriers"", ""EF-hand domain containing"""	10983	protein-coding gene	gene with protein product	"""mitochondrial aspartate glutamate carrier 2"""	603859	"""solute carrier family 25, member 13 (citrin)"""	CTLN2		10369257	Standard	NM_014251		Approved	CITRIN, ARALAR2	uc003uog.4	Q9UJS0	OTTHUMG00000023074	ENST00000265631.5:c.1117A>G	7.37:g.95813649T>C	ENSP00000265631:p.Asn373Asp		95651585	NM_014251	O14566|O14575|Q546F9|Q9NZW1|Q9UNI7	Missense_Mutation	SNP	ENST00000265631.5	37	CCDS5645.1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.515972	0.85495	.	.	ENSG00000004864	ENST00000265631;ENST00000416240;ENST00000542654	T;T;T	0.79033	-1.23;-1.23;-1.23	4.86	3.71	0.42584	Mitochondrial carrier domain (2);	0.104643	0.64402	D	0.000008	D	0.86539	0.5957	M	0.80847	2.515	0.53005	D	0.999964	D;D;D	0.76494	0.995;0.999;0.996	D;D;D	0.73380	0.944;0.98;0.967	D	0.86883	0.2043	10	0.66056	D	0.02	-15.0334	10.6312	0.45538	0.0:0.0755:0.0:0.9245	.	265;374;373	F5GX33;Q546F9;Q9UJS0	.;.;CMC2_HUMAN	D	373;374;265	ENSP00000265631:N373D;ENSP00000400101:N374D;ENSP00000440484:N265D	ENSP00000265631:N373D	N	-	1	0	SLC25A13	95651585	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.868000	0.87116	0.998000	0.38996	0.533000	0.62120	AAC		0.413	SLC25A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059395.2	NM_014251	
PLXNA4	91584	broad.mit.edu	37	7	132192892	132192892	+	Silent	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr7:132192892C>T	ENST00000359827.3	-	2	1523	c.561G>A	c.(559-561)acG>acA	p.T187T	PLXNA4_ENST00000378539.5_Silent_p.T187T|PLXNA4_ENST00000423507.2_Silent_p.T187T|PLXNA4_ENST00000321063.4_Silent_p.T187T			Q9HCM2	PLXA4_HUMAN	plexin A4	187	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.T187T(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CATCCACTGCCGTGGCAATGA	0.527																																					p.T187T												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.G561A	7						.						124.0	115.0	118.0					7																	132192892		2203	4300	6503	131843432	SO:0001819	synonymous_variant	91584	exon3			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.561G>A	7.37:g.132192892C>T			131843432	NM_181775	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Silent	SNP	ENST00000359827.3	37	CCDS43646.1																																																																																				0.527	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338422.2	NM_181775	
ZFAT	57623	broad.mit.edu	37	8	135669910	135669910	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr8:135669910G>A	ENST00000377838.3	-	2	264	c.90C>T	c.(88-90)caC>caT	p.H30H	ZFAT_ENST00000520727.1_Silent_p.H18H|ZFAT_ENST00000523399.1_Silent_p.H30H|ZFAT_ENST00000429442.2_Silent_p.H18H|ZFAT_ENST00000520214.1_Silent_p.H18H|ZFAT_ENST00000520356.1_Silent_p.H18H	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	30					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.H18H(2)|p.H30H(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TCTCTGAAACGTGGGAGAGGA	0.418																																					p.H30H												.	.	3	Substitution - coding silent(3)	large_intestine(3)	c.C90T	8						.						107.0	102.0	104.0					8																	135669910		1884	4114	5998	135739092	SO:0001819	synonymous_variant	57623	exon2			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.90C>T	8.37:g.135669910G>A			135739092	NM_001174157	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Silent	SNP	ENST00000377838.3	37	CCDS47924.1																																																																																				0.418	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378272.1	NM_001029939	
KCNK9	51305	broad.mit.edu	37	8	140715144	140715144	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr8:140715144G>T	ENST00000520439.1	-	1	155	c.92C>A	c.(91-93)tCg>tAg	p.S31*	KCNK9_ENST00000303015.1_Nonsense_Mutation_p.S31*	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	31					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.S31*(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CTCGTGGTCCGACTCGAGGGC	0.622																																					p.S31X												.	.	1	Substitution - Nonsense(1)	large_intestine(1)	c.C92A	8						.						78.0	66.0	70.0					8																	140715144		2203	4300	6503	140784326	SO:0001587	stop_gained	51305	exon1			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.92C>A	8.37:g.140715144G>T	ENSP00000430676:p.Ser31*		140784326	NM_016601	Q2M290|Q540F2	Nonsense_Mutation	SNP	ENST00000520439.1	37	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	39	7.325648	0.98214	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	.	.	.	3.81	3.81	0.43845	.	0.079028	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0272	0.71680	0.0:0.0:1.0:0.0	.	.	.	.	X	31	.	ENSP00000302166:S31X	S	-	2	0	KCNK9	140784326	1.000000	0.71417	0.992000	0.48379	0.996000	0.88848	6.891000	0.75639	1.811000	0.52892	0.555000	0.69702	TCG		0.622	KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601	
PNPLA7	375775	broad.mit.edu	37	9	140356449	140356450	+	Frame_Shift_Ins	INS	-	-	C	rs71493670|rs377090446	byFrequency	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	-	-	-	C	-	C	Unknown	Valid	Germline	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr9:140356449_140356450insC	ENST00000277531.4	-	31	3800_3801	c.3614_3615insG	c.(3613-3615)ggcfs	p.G1205fs	NSMF_ENST00000371474.3_5'Flank|PNPLA7_ENST00000406427.1_Frame_Shift_Ins_p.G1230fs|NSMF_ENST00000371472.2_5'Flank|NSMF_ENST00000371473.3_5'Flank|PNPLA7_ENST00000371457.1_Frame_Shift_Ins_p.G811fs|NSMF_ENST00000392812.4_5'Flank|NSMF_ENST00000265663.7_5'Flank|PNPLA7_ENST00000492278.1_5'UTR|NSMF_ENST00000371475.3_5'Flank|NSMF_ENST00000437259.1_5'Flank	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1205					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CGCCGCTGCGGCCCCAGATGTC	0.698													CCCC|CCCC|CCCCC|insertion	10	0.00199681	0.0008	0.0	5008	,	,		14428	0.0		0.0089	False		,,,				2504	0.0				p.G1205fs												.	.	0			c.3615_3616insG	9						.		,	11,4231		0,11,2110					,	-6.2	0.0		dbSNP_130	13	82,8142		2,78,4032	no	frameshift,frameshift	PNPLA7	NM_152286.3,NM_001098537.1	,	2,89,6142	A1A1,A1R,RR		0.9971,0.2593,0.746	,	,		93,12373				139476271	SO:0001589	frameshift_variant	375775	exon31			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.3615dupG	9.37:g.140356453_140356453dupC	ENSP00000277531:p.Gly1205fs		139476270	NM_152286	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Frame_Shift_Ins	INS	ENST00000277531.4	37	CCDS7045.1																																																																																				0.698	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286	
SPATA31D1	389763	broad.mit.edu	37	9	84608058	84608058	+	Silent	SNP	A	A	G	rs543104488		TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr9:84608058A>G	ENST00000344803.2	+	4	2720	c.2673A>G	c.(2671-2673)gaA>gaG	p.E891E		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	891					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.E891E(2)									CTTCCCAGGAAATTTCCTTCC	0.438													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20173	0.0		0.0	False		,,,				2504	0.0				p.E891E												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.A2673G	9						.						90.0	77.0	81.0					9																	84608058		1853	4107	5960	83797878	SO:0001819	synonymous_variant	389763	exon4				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2673A>G	9.37:g.84608058A>G			83797878	NM_001001670		Silent	SNP	ENST00000344803.2	37	CCDS47986.1																																																																																				0.438	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402325.1	NM_001001670	
ZNF618	114991	broad.mit.edu	37	9	116811415	116811415	+	Silent	SNP	C	C	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chr9:116811415C>T	ENST00000374126.5	+	15	1932	c.1833C>T	c.(1831-1833)atC>atT	p.I611I	ZNF618_ENST00000288466.7_Silent_p.I518I|ZNF618_ENST00000470105.1_3'UTR			Q5T7W0	ZN618_HUMAN	zinc finger protein 618	611					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.I611I(1)|p.I518I(1)		breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TGTCGGAGATCAGGACAGTGT	0.607																																					p.I518I												.	.	2	Substitution - coding silent(2)	large_intestine(2)	c.C1554T	9						.						114.0	113.0	113.0					9																	116811415		2194	4281	6475	115851236	SO:0001819	synonymous_variant	114991	exon14			BC012922	CCDS48008.1	9q33.1	2010-04-21			ENSG00000157657	ENSG00000157657		"""Zinc fingers, C2H2-type"""	29416	protein-coding gene	gene with protein product	"""neural precursor cell expressed, developmentally down-regulated 10"""					11853319	Standard	NM_133374		Approved	KIAA1952, NEDD10	uc004bic.3	Q5T7W0	OTTHUMG00000020532	ENST00000374126.5:c.1833C>T	9.37:g.116811415C>T			115851236	NM_133374	B9EG82|Q4G0X6|Q5T7W1|Q6ZT53|Q7Z6B9|Q8TF49|Q96E49	Silent	SNP	ENST00000374126.5	37																																																																																					0.607	ZNF618-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000053749.1	XM_054983	
PHEX	5251	broad.mit.edu	37	X	22151684	22151684	+	Missense_Mutation	SNP	G	G	T			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chrX:22151684G>T	ENST00000379374.4	+	12	1912	c.1347G>T	c.(1345-1347)atG>atT	p.M449I	PHEX_ENST00000537599.1_Missense_Mutation_p.M449I|PHEX_ENST00000535894.1_Missense_Mutation_p.M352I|PHEX_ENST00000418858.3_Missense_Mutation_p.M152I	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	449					bone mineralization (GO:0030282)|cell-cell signaling (GO:0007267)|cellular protein modification process (GO:0006464)|organophosphate metabolic process (GO:0019637)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.M449I(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTATTGACATGCTAGAGAAAG	0.413																																					p.M449I												.	.	1	Substitution - Missense(1)	large_intestine(1)	c.G1347T	X						.						143.0	121.0	128.0					X																	22151684		2203	4300	6503	22061605	SO:0001583	missense	5251	exon12			U82970	CCDS14204.1	Xp22.2-p22.1	2008-07-31	2008-07-31		ENSG00000102174	ENSG00000102174			8918	protein-coding gene	gene with protein product		300550	"""phosphate regulating gene with homologies to endopeptidases on the X chromosome (hypophosphatemia, vitamin D resistant rickets)"""	HYP, HPDR		7550339, 9070861	Standard	NM_000444		Approved	PEX, HPDR1, HYP1, XLH	uc004dah.3	P78562	OTTHUMG00000021241	ENST00000379374.4:c.1347G>T	X.37:g.22151684G>T	ENSP00000368682:p.Met449Ile		22061605	NM_000444	O00678|Q13646|Q2M325|Q93032|Q99827	Missense_Mutation	SNP	ENST00000379374.4	37	CCDS14204.1	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953689	0.34471	.	.	ENSG00000102174	ENST00000379374;ENST00000537599;ENST00000535894;ENST00000418858	T;T;T;T	0.73152	-0.72;-0.72;-0.72;-0.72	5.39	5.39	0.77823	Peptidase M13 (1);Metallopeptidase, catalytic domain (1);	0.109442	0.85682	D	0.000000	T	0.36524	0.0970	N	0.00186	-1.895	0.43036	D	0.994613	B;B	0.14438	0.008;0.01	B;B	0.13407	0.006;0.009	T	0.42916	-0.9423	10	0.26408	T	0.33	-18.4496	16.8486	0.85987	0.0:0.0:1.0:0.0	.	449;449	F5GXU4;P78562	.;PHEX_HUMAN	I	449;449;352;152	ENSP00000368682:M449I;ENSP00000440362:M449I;ENSP00000439418:M352I;ENSP00000443531:M152I	ENSP00000368682:M449I	M	+	3	0	PHEX	22061605	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	4.665000	0.61547	2.239000	0.73571	0.600000	0.82982	ATG		0.413	PHEX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056035.1	NM_000444	
AFF2	2334	broad.mit.edu	37	X	148037645	148037645	+	Silent	SNP	G	G	A			TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	Capture	454_PCR_WGA			Illumina HiSeq	TCGA-AA-3850-01A-01W-0995-10	TCGA-AA-3850-10A-01W-0995-10	g.chrX:148037645G>A	ENST00000370460.2	+	11	2549	c.2070G>A	c.(2068-2070)ttG>ttA	p.L690L	AFF2_ENST00000286437.5_Silent_p.L331L|AFF2_ENST00000342251.3_Silent_p.L657L|AFF2_ENST00000370457.5_Silent_p.L657L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	690					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.L690L(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ACATCCCTTTGGCTCCCGAGA	0.488																																					p.L690L												.	.	1	Substitution - coding silent(1)	large_intestine(1)	c.G2070A	X						.						88.0	92.0	91.0					X																	148037645		2203	4300	6503	147845345	SO:0001819	synonymous_variant	2334	exon11			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2070G>A	X.37:g.148037645G>A			147845345	NM_002025	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Silent	SNP	ENST00000370460.2	37	CCDS14684.1																																																																																				0.488	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058673.2	NM_002025	
