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	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	ref_context	gc_content	COSMIC_n_overlapping_mutations	ESP_AvgAAsampleReadDepth	ESP_AvgEAsampleReadDepth	ESP_AvgSampleReadDepth	ESP_Chromosome	ESP_Position	ESP_TotalAAsamplesCovered	ESP_TotalEAsamplesCovered	ESP_TotalSamplesCovered	Ensembl_so_accession	Ensembl_so_term	HGNC_AccessionNumbers	HGNC_CCDSIDs	HGNC_Chromosome	HGNC_DateModified	HGNC_DateNameChanged	HGNC_DateSymbolChanged	HGNC_EnsemblGeneID	HGNC_EnsemblIDsuppliedbyEnsembl	HGNC_Genefamilydescription	HGNC_HGNCID	HGNC_LocusGroup	HGNC_LocusType	HGNC_NameSynonyms	HGNC_OMIMIDsuppliedbyNCBI	HGNC_PreviousNames	HGNC_PreviousSymbols	HGNC_PubmedIDs	HGNC_RecordType	HGNC_RefSeqsuppliedbyNCBI	HGNC_Status	HGNC_Synonyms	HGNC_UCSCIDsuppliedbyUCSC	HGNC_UniProtIDsuppliedbyUniProt	HGNC_VEGAIDs	HGVS_coding_DNA_change	HGVS_genomic_change	HGVS_protein_change	UniProt_alt_uniprot_accessions	annotation_transcript	build	ccds_id	dbNSFP_1000Gp1_AC	dbNSFP_1000Gp1_AF	dbNSFP_1000Gp1_AFR_AC	dbNSFP_1000Gp1_AFR_AF	dbNSFP_1000Gp1_AMR_AC	dbNSFP_1000Gp1_AMR_AF	dbNSFP_1000Gp1_ASN_AC	dbNSFP_1000Gp1_ASN_AF	dbNSFP_1000Gp1_EUR_AC	dbNSFP_1000Gp1_EUR_AF	dbNSFP_Ancestral_allele	dbNSFP_CADD_phred	dbNSFP_CADD_raw	dbNSFP_CADD_raw_rankscore	dbNSFP_ESP6500_AA_AF	dbNSFP_ESP6500_EA_AF	dbNSFP_Ensembl_geneid	dbNSFP_Ensembl_transcriptid	dbNSFP_FATHMM_pred	dbNSFP_FATHMM_rankscore	dbNSFP_FATHMM_score	dbNSFP_GERP_NR	dbNSFP_GERP_RS	dbNSFP_GERP_RS_rankscore	dbNSFP_Interpro_domain	dbNSFP_LRT_Omega	dbNSFP_LRT_converted_rankscore	dbNSFP_LRT_pred	dbNSFP_LRT_score	dbNSFP_LR_pred	dbNSFP_LR_rankscore	dbNSFP_LR_score	dbNSFP_MutationAssessor_pred	dbNSFP_MutationAssessor_rankscore	dbNSFP_MutationAssessor_score	dbNSFP_MutationTaster_converted_rankscore	dbNSFP_MutationTaster_pred	dbNSFP_MutationTaster_score	dbNSFP_Polyphen2_HDIV_pred	dbNSFP_Polyphen2_HDIV_rankscore	dbNSFP_Polyphen2_HDIV_score	dbNSFP_Polyphen2_HVAR_pred	dbNSFP_Polyphen2_HVAR_rankscore	dbNSFP_Polyphen2_HVAR_score	dbNSFP_RadialSVM_pred	dbNSFP_RadialSVM_rankscore	dbNSFP_RadialSVM_score	dbNSFP_Reliability_index	dbNSFP_SIFT_converted_rankscore	dbNSFP_SIFT_pred	dbNSFP_SIFT_score	dbNSFP_SLR_test_statistic	dbNSFP_SiPhy_29way_logOdds	dbNSFP_SiPhy_29way_logOdds_rankscore	dbNSFP_SiPhy_29way_pi	dbNSFP_UniSNP_ids	dbNSFP_Uniprot_aapos	dbNSFP_Uniprot_acc	dbNSFP_Uniprot_id	dbNSFP_aaalt	dbNSFP_aapos	dbNSFP_aapos_FATHMM	dbNSFP_aapos_SIFT	dbNSFP_aaref	dbNSFP_cds_strand	dbNSFP_codonpos	dbNSFP_folddegenerate	dbNSFP_genename	dbNSFP_hg18_pos1coor	dbNSFP_phastCons100way_vertebrate	dbNSFP_phastCons100way_vertebrate_rankscore	dbNSFP_phastCons46way_placental	dbNSFP_phastCons46way_placental_rankscore	dbNSFP_phastCons46way_primate	dbNSFP_phastCons46way_primate_rankscore	dbNSFP_phyloP100way_vertebrate	dbNSFP_phyloP100way_vertebrate_rankscore	dbNSFP_phyloP46way_placental	dbNSFP_phyloP46way_placental_rankscore	dbNSFP_phyloP46way_primate	dbNSFP_phyloP46way_primate_rankscore	dbNSFP_refcodon	gencode_transcript_name	gencode_transcript_status	gencode_transcript_tags	gencode_transcript_type	gene_type	havana_transcript	init_n_lod	init_t_lod	isArtifactMode	n_alt_count	n_ref_count	oxoGCut	pox	pox_cutoff	qox	refseq_mrna_id	t_alt_count	t_lod_fstar	t_ref_count	tumor_f
FUK	197258	broad.mit.edu	hg19	16	70500085	70500085	+	Silent	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr16:70500085C>T	ENST00000288078.6	+	5	568	c.336C>T	c.(334-336)ccC>ccT	p.P112P	FUK_ENST00000571514.1_Intron|FUK_ENST00000428974.2_Silent_p.P95P|FUK_ENST00000378912.2_Silent_p.P144P	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	112			cytoplasm	ATP binding|fucokinase activity	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)			CCTGCCTCCCCGTGGAGAACC	0.637	0	55.0	61.0	59.0	16	70500085	1960	4122	6082	SO:0001819	synonymous_variant		CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675			12056818	Standard	XM_006721161	Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.336C>T	16.37:g.70500085C>T		Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	ENST00000288078.6	37	CCDS10891.2																																																																																			FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2		99.294839	0	8	65	0	0	1	0	NM_145059	29	102.044972	8	0.783784
RAB2B	84932	broad.mit.edu	hg19	14	21936887	21936887	+	Missense_Mutation	SNP	T	T	C			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr14:21936887T>C	ENST00000397762.1	-	4	311	c.211A>G	c.(211-213)Atc>Gtc	p.I71V	RAB2B_ENST00000461909.1_5'UTR	NM_001163380.1|NM_032846.3	NP_001156852.1|NP_116235.2	Q8WUD1	RAB2B_HUMAN	RAB2B, member RAS oncogene family	71		protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane|plasma membrane	GTP binding	NS(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	6	all_cancers(95;0.000858)		Epithelial(56;1.53e-06)|all cancers(55;1.44e-05)	GBM - Glioblastoma multiforme(265;0.00391)	GAACGGGTGATAGAACGGAAG	0.498	0	91.0	83.0	86.0	14	21936887	2203	4300	6503	SO:0001583	missense	AK027730	CCDS9570.1	14q11.1	2006-12-18			ENSG00000129472	ENSG00000129472	"""RAB, member RAS oncogene"""	20246	protein-coding gene	gene with protein product		607466			12376746	Standard	NM_032846	Approved	FLJ14824	uc010tlt.2	Q8WUD1	OTTHUMG00000029693	ENST00000397762.1:c.211A>G	14.37:g.21936887T>C	ENSP00000380869:p.Ile71Val	B2RD03|D3DS24|Q6NZ33	ENST00000397762.1	37	CCDS9570.1	.	.	.	.	.	.	.	.	.	.	T	18.23	3.578189	0.65878	.	.	ENSG00000129472	ENST00000397762;ENST00000304034	T	0.77229	-1.08	5.81	5.81	0.92471	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000003	T	0.75406	0.3845	L	0.33753	1.03	0.80722	D	1	P	0.40602	0.723	P	0.47786	0.557	T	0.72846	-0.4169	10	0.27082	T	0.32	.	15.1438	0.72633	0.0:0.0:0.0:1.0	.	71	Q8WUD1	RAB2B_HUMAN	V	71	ENSP00000380869:I71V	ENSP00000302005:I71V	I	-	1	0	RAB2B	21006727	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	5.832000	0.69337	2.216000	0.71823	0.533000	0.62120	ATC	RAB2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000074053.4		81.175286	0	-16	34	0	0	1	0		25	81.313950	31	0.446429
CD109	135228	broad.mit.edu	hg19	6	74477911	74477911	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr6:74477911G>T	ENST00000437994.2	+	14	2062	c.1631G>T	c.(1630-1632)aGt>aTt	p.S544I	CD109_ENST00000287097.5_Missense_Mutation_p.S544I|CD109_ENST00000422508.2_Missense_Mutation_p.S467I	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	544			anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63					GAAATTATAAGTGATGTTCTA	0.279	0	69.0	73.0	72.0	6	74477911	2203	4299	6502	SO:0001583	missense	AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535	"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""		11861284, 11861285	Standard	XM_005248659	Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.1631G>T	6.37:g.74477911G>T	ENSP00000287097:p.Ser544Ile	A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	ENST00000287097.5	37	CCDS4982.1	.	.	.	.	.	.	.	.	.	.	G	13.42	2.233090	0.39498	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.62639	0.01;0.01;0.01	4.76	0.895	0.19247	Alpha-2-macroglobulin, N-terminal 2 (1);	0.273890	0.40222	N	0.001160	T	0.30854	0.0778	L	0.32530	0.975	0.22342	N	0.999181	B;B;B;B	0.33477	0.413;0.298;0.107;0.045	B;B;B;B	0.37833	0.088;0.259;0.241;0.189	T	0.21109	-1.0255	10	0.52906	T	0.07	.	8.3782	0.32455	0.7563:0.0:0.2437:0.0	.	467;544;544;544	Q6YHK3-2;Q6YHK3-3;Q6YHK3-4;Q6YHK3	.;.;.;CD109_HUMAN	I	544;467;544	ENSP00000388062:S544I;ENSP00000404475:S467I;ENSP00000287097:S544I	ENSP00000287097:S544I	S	+	2	0	CD109	74534632	1.000000	0.71417	0.998000	0.56505	0.944000	0.59088	2.037000	0.41174	0.076000	0.16826	-0.752000	0.03492	AGT	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041230.3		49.711136	1	-17	31	0	2.61681e-11	1	2.73576e-11	NM_133493	14	51.881834	1	0.933333
GNAQ	2776	broad.mit.edu	hg19	9	80409488	80409488	+	Missense_Mutation	SNP	T	T	A	rs121913492		TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr9:80409488T>A	ENST00000286548.4	-	5	848	c.626A>T	c.(625-627)cAa>cTa	p.Q209L	GNAQ_ENST00000397476.3_Missense_Mutation_p.Q7L	NM_002072.3	NP_002063.2	P50148	GNAQ_HUMAN	guanine nucleotide binding protein (G protein), q polypeptide	209		activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|glutamate signaling pathway|negative regulation of protein kinase activity|platelet activation|protein ADP-ribosylation|protein stabilization|regulation of action potential|regulation of catenin import into nucleus	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activator activity|GTPase activity|signal transducer activity	NS(1)|endometrium(3)|eye(229)|kidney(1)|large_intestine(4)|lung(6)|meninges(11)|ovary(1)|prostate(1)|skin(44)|upper_aerodigestive_tract(1)	302					CTCTGACCTTTGGCCCCCTAC	0.348	153	108.0	105.0	106.0	9	80409488	2203	4300	6503	SO:0001583	missense		CCDS6658.1	9q21	2010-03-17			ENSG00000156052	ENSG00000156052		4390	protein-coding gene	gene with protein product		600998			8825633	Standard	NM_002072	Approved	G-ALPHA-q, GAQ	uc004akw.3	P50148	OTTHUMG00000020059	ENST00000286548.4:c.626A>T	9.37:g.80409488T>A	ENSP00000286548:p.Gln209Leu	O15108|Q13462|Q6NT27|Q92471|Q9BZB9	ENST00000286548.4	37	CCDS6658.1	.	.	.	.	.	.	.	.	.	.	T	29.2	4.985495	0.93044	.	.	ENSG00000156052	ENST00000286548;ENST00000397476	D;D	0.91237	-2.81;-2.81	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97573	0.9205	H	0.99347	4.525	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.99402	1.0928	10	0.87932	D	0	.	15.9502	0.79827	0.0:0.0:0.0:1.0	.	209	P50148	GNAQ_HUMAN	L	209;7	ENSP00000286548:Q209L;ENSP00000443197:Q7L	ENSP00000286548:Q209L	Q	-	2	0	GNAQ	79599308	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	8.040000	0.89188	2.167000	0.68274	0.460000	0.39030	CAA	GNAQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052761.1		122.079531	0	-41	71	0	0	1	0	NM_002072	37	122.158251	32	0.536232
CADM3	57863	broad.mit.edu	hg19	1	159170598	159170598	+	Silent	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr1:159170598C>T	ENST00000368125.4	+	9	1240	c.1083C>T	c.(1081-1083)acC>acT	p.T361T	CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000368124.4_Silent_p.T395T	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3	361		adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)				ACACAGGAACCTACCTGACAC	0.582	1	86.0	79.0	82.0	1	159170598	2203	4300	6503	SO:0001819	synonymous_variant	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B	11536053	Standard	NM_021189	Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368124.4:c.1185C>T	1.37:g.159170598C>T		Q8IZQ9|Q9NVJ5|Q9UJP1	ENST00000368124.4	37	CCDS1182.1																																																																																			CADM3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090331.1		41.635666	0	-18	36	0	0	1	0	NM_021189	14	42.796043	29	0.325581
INPP5A	3632	broad.mit.edu	hg19	10	134595441	134595441	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr10:134595441A>T	ENST00000368594.3	+	15	1512	c.1235A>T	c.(1234-1236)cAg>cTg	p.Q412L		NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	412		cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding	cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)	TGTGTCGTGCAGTGACGTGGT	0.527	0	134.0	146.0	142.0	10	134595441	2185	4283	6468	SO:0001583	missense	X77567	CCDS7669.2	10q26.3	2008-08-07	2002-08-29		ENSG00000068383	ENSG00000068383		6076	protein-coding gene	gene with protein product	"""CTCL tumor antigen HD-CL-02"", ""43 kDa inositol polyphosphate 5-phophatase"", ""inositol polyphosphate 5-phophatase, 40kDa"", ""InsP3 5-phosphatase"", ""type I inositol-1,4,5-trisphosphate 5-phosphatase"""	600106	"""inositol polyphosphate-5-phosphatase, 40kD"""		8013665	Standard	NM_005539	Approved	5PTASE	uc001llp.3	Q14642	OTTHUMG00000019293	ENST00000368594.3:c.1235A>T	10.37:g.134595441A>T	ENSP00000357583:p.Gln412Leu	D3DXI3|Q14640|Q5JSF1	ENST00000368594.3	37	CCDS7669.2	.	.	.	.	.	.	.	.	.	.	A	22.5	4.300456	0.81136	.	.	ENSG00000068383	ENST00000368594;ENST00000416326;ENST00000432898	T	0.48836	0.8	4.46	4.46	0.54185	.	0.322809	0.25925	N	0.027401	T	0.39572	0.1083	L	0.44542	1.39	0.80722	D	1	B;P	0.37466	0.024;0.596	B;B	0.32864	0.02;0.154	T	0.46665	-0.9175	10	0.87932	D	0	.	14.0663	0.64831	1.0:0.0:0.0:0.0	.	355;412	F5GWM1;Q14642	.;I5P1_HUMAN	L	412;355;329	ENSP00000357583:Q412L	ENSP00000357583:Q412L	Q	+	2	0	INPP5A	134445431	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	6.359000	0.73060	1.797000	0.52628	0.374000	0.22700	CAG	INPP5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051085.1		127.454701	0	-19	106	0	0	1	0	NM_005539	41	128.312041	61	0.401961
TNPO1	3842	broad.mit.edu	hg19	5	72184017	72184017	+	Silent	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr5:72184017C>T	ENST00000337273.5	+	13	1842	c.1416C>T	c.(1414-1416)cgC>cgT	p.R472R	TNPO1_ENST00000523768.1_Silent_p.R422R|TNPO1_ENST00000454282.1_Silent_p.R422R|TNPO1_ENST00000506351.2_Silent_p.R464R	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	472		interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)	CTCTTAGCCGCTATGCACACT	0.488	0	118.0	118.0	118.0	5	72184017	2203	4300	6503	SO:0001819	synonymous_variant	U70322	CCDS4016.1, CCDS43329.1	5q13.1	2009-01-12	2004-01-29	2004-01-30	ENSG00000083312	ENSG00000083312	"""Importins"""	6401	protein-coding gene	gene with protein product	"""importin 2"""	602901	"""karyopherin (importin) beta 2"""	KPNB2	8808633, 9144189	Standard	NM_153188	Approved	MIP, TRN, IPO2, MIP1	uc003kci.4	Q92973	OTTHUMG00000100967	ENST00000506351.2:c.1392C>T	5.37:g.72184017C>T		B4DVC6|Q92957|Q92975	ENST00000506351.2	37	CCDS4016.1																																																																																			TNPO1-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368911.3		98.819435	0	-21	88	0	0	1	0	NM_002270	34	99.646260	52	0.395349
OR6C65	403282	broad.mit.edu	hg19	12	55795145	55795145	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr12:55795145C>T	ENST00000379665.2	+	1	932	c.833C>T	c.(832-834)tCt>tTt	p.S278F		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	278		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15					CTTAATACCTCTGTTGCTCCT	0.373	0	80.0	77.0	78.0	12	55795145	2203	4300	6503	SO:0001583	missense		CCDS31821.1	12q13.2	2013-09-23			ENSG00000205328	ENSG00000205328	"""GPCR / Class A : Olfactory receptors"""	31295	protein-coding gene	gene with protein product						Standard	NM_001005518	Approved		uc010spl.2	A6NJZ3	OTTHUMG00000169955	ENST00000379665.2:c.833C>T	12.37:g.55795145C>T	ENSP00000368986:p.Ser278Phe	B2RNH9	ENST00000379665.2	37	CCDS31821.1	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631695	0.29068	.	.	ENSG00000205328	ENST00000379665	T	0.00076	8.76	4.24	2.31	0.28768	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39274	U	0.001404	T	0.00300	0.0009	L	0.49126	1.545	0.09310	N	1	D	0.69078	0.997	D	0.68483	0.958	T	0.48917	-0.8992	10	0.87932	D	0	.	7.3666	0.26776	0.0:0.6774:0.0:0.3226	.	278	A6NJZ3	O6C65_HUMAN	F	278	ENSP00000368986:S278F	ENSP00000368986:S278F	S	+	2	0	OR6C65	54081412	0.002000	0.14202	0.407000	0.26434	0.316000	0.28119	1.431000	0.34925	0.870000	0.35726	0.424000	0.28305	TCT	OR6C65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406674.1		94.347626	0	-13	75	0	0	1	0		30	94.362455	28	0.517241
MUC16	94025	broad.mit.edu	hg19	19	9089401	9089401	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:9089401C>T	ENST00000397910.4	-	1	2617	c.2414G>A	c.(2413-2415)aGt>aAt	p.S805N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	805	Thr-rich.	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590					AGTGAGGACACTCCCTGCTGT	0.512	0	231.0	222.0	225.0	19	9089401	2047	4191	6238	SO:0001583	missense	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143	"""Mucins"""	15582	protein-coding gene	gene with protein product		606154			11369781	Standard	XM_006722941	Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.2414G>A	19.37:g.9089401C>T	ENSP00000381008:p.Ser805Asn	Q6ZQW5|Q96RK2	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	c	4.021	0.001418	0.07819	.	.	ENSG00000181143	ENST00000397910	T	0.02656	4.21	1.56	1.56	0.23342	.	.	.	.	.	T	0.01592	0.0051	N	0.08118	0	.	.	.	P	0.50710	0.938	B	0.38156	0.266	T	0.45469	-0.9259	8	0.87932	D	0	.	6.5643	0.22503	0.0:1.0:0.0:0.0	.	805	B5ME49	.	N	805	ENSP00000381008:S805N	ENSP00000381008:S805N	S	-	2	0	MUC16	8950401	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-1.046000	0.03525	1.175000	0.42826	0.205000	0.17691	AGT	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		198.278500	0	-20	122	0	0	1	0	NM_024690	64	198.813823	83	0.435374
ATP13A5	344905	broad.mit.edu	hg19	3	193071963	193071963	+	Missense_Mutation	SNP	C	C	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr3:193071963C>T	ENST00000342358.4	-	6	676	c.559G>A	c.(559-561)Gcc>Acc	p.A187T		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	187		ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)	ACCTCAATGGCGTTGGGCCCA	0.388	0	123.0	109.0	114.0	3	193071963	2203	4300	6503	SO:0001583	missense	AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527	"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product						Standard	NM_198505	Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.559G>A	3.37:g.193071963C>T	ENSP00000341942:p.Ala187Thr	Q6UWS4|Q6ZWL0	ENST00000342358.4	37	CCDS33914.1	.	.	.	.	.	.	.	.	.	.	C	2.047	-0.418546	0.04766	.	.	ENSG00000187527	ENST00000342358	T	0.78816	-1.21	5.13	0.117	0.14652	ATPase, P-type cation-transporter, N-terminal (2);	0.413650	0.22932	N	0.053897	T	0.51822	0.1697	N	0.12471	0.22	0.20764	N	0.999852	B	0.12630	0.006	B	0.15052	0.012	T	0.30090	-0.9990	10	0.14252	T	0.57	-1.2205	5.1409	0.14959	0.2471:0.5171:0.0:0.2358	.	187	Q4VNC0	AT135_HUMAN	T	187	ENSP00000341942:A187T	ENSP00000341942:A187T	A	-	1	0	ATP13A5	194554657	0.007000	0.16637	0.622000	0.29159	0.322000	0.28314	-0.171000	0.09883	-0.306000	0.08818	-0.940000	0.02684	GCC	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343012.1		140.879801	0	-34	76	0	0	1	0	NM_198505	42	147.473754	6	0.875000
FAT3	120114	broad.mit.edu	hg19	11	92620220	92620220	+	Missense_Mutation	SNP	G	G	T			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr11:92620220G>T	ENST00000298047.6	+	24	13009	c.12992G>T	c.(12991-12993)gGc>gTc	p.G4331V	FAT3_ENST00000533797.1_Missense_Mutation_p.G666V|FAT3_ENST00000409404.2_Missense_Mutation_p.G4331V|FAT3_ENST00000525166.1_Missense_Mutation_p.G4181V|FAT3_ENST00000489716.1_3'UTR			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4331		homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)			AGTAATAAAGGCAGCAACTCT	0.478	0	58.0	60.0	60.0	11	92620220	1896	4129	6025	SO:0001583	missense	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323	"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""		11811999	Standard	NM_001008781	Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000525166.1:c.12542G>T	11.37:g.92620220G>T	ENSP00000432586:p.Gly4181Val	B5MDB0|Q96AU6	ENST00000525166.1	37		.	.	.	.	.	.	.	.	.	.	G	21.7	4.193067	0.78902	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;D	0.86956	-0.82;-0.9;-0.83;-2.19	5.73	5.73	0.89815	.	.	.	.	.	D	0.91928	0.7444	M	0.75264	2.295	0.80722	D	1	D;B	0.59767	0.986;0.008	P;B	0.55391	0.775;0.017	D	0.91473	0.5198	9	0.49607	T	0.09	.	19.8991	0.96978	0.0:0.0:1.0:0.0	.	4331;4331	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	V	4331;4331;4181;666	ENSP00000298047:G4331V;ENSP00000387040:G4331V;ENSP00000432586:G4181V;ENSP00000436399:G666V	ENSP00000298047:G4331V	G	+	2	0	FAT3	92259868	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.551000	0.67274	2.708000	0.92522	0.655000	0.94253	GGC	FAT3-001	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000335363.3		23.596017	1	-3	10	0	0.00448238	1	0.00448238	NM_001008781	8	23.644637	10	0.444444
PCDHB16	0	broad.mit.edu	hg19	5	140563665	140563665	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr5:140563665G>A	ENST00000361016.2	+	1	2686	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		511	Cadherin 5.	calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		CGCAGACAACGGCCACCTGTT	0.682	0	32.0	33.0	32.0	5	140563665	2143	4165	6308	SO:0001583	missense	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963		"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345			11230163, 11322959	Standard	NM_020957	Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1531G>A	5.37:g.140563665G>A	ENSP00000354293:p.Gly511Ser	B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	ENST00000361016.2	37	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	17.18	3.324679	0.60634	.	.	ENSG00000196963	ENST00000361016	D	0.91407	-2.84	4.26	4.26	0.50523	Cadherin (5);Cadherin-like (1);	0.000000	0.35040	N	0.003495	D	0.97473	0.9173	H	0.99789	4.78	0.43579	D	0.995916	D	0.89917	1.0	D	0.97110	1.0	D	0.97504	1.0062	10	0.87932	D	0	.	11.0898	0.48108	0.0926:0.0:0.9074:0.0	.	511	Q9NRJ7	PCDBG_HUMAN	S	511	ENSP00000354293:G511S	ENSP00000354293:G511S	G	+	1	0	PCDHB16	140543849	1.000000	0.71417	0.499000	0.27577	0.020000	0.10135	7.779000	0.85648	1.931000	0.55961	0.580000	0.79431	GGC	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1		90.799595	0	93	136	0	0	1	0	NM_020957	31	92.722110	59	0.344444
FBXO10	26267	broad.mit.edu	hg19	9	37518321	37518321	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr9:37518321G>A	ENST00000432825.2	-	9	2363	c.2315C>T	c.(2314-2316)gCc>gTc	p.A772V	FBXO10_ENST00000541829.1_Missense_Mutation_p.A297V|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	772			ubiquitin ligase complex	ubiquitin-protein ligase activity	breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)	GCTGTTGTTGGCCACTCGGGT	0.582	0	82.0	92.0	89.0	9	37518321	2134	4240	6374	SO:0001583	missense	AF174598	CCDS47966.1	9p13.1	2014-01-29	2004-06-15		ENSG00000147912	ENSG00000147912	"""F-boxes /  ""other"""""	13589	protein-coding gene	gene with protein product		609092	"""F-box only protein 10"""		10531035, 10531037, 19300908	Standard	NM_012166	Approved	FBX10	uc004aab.3	Q9UK96	OTTHUMG00000019926	ENST00000432825.2:c.2315C>T	9.37:g.37518321G>A	ENSP00000403802:p.Ala772Val	Q08AL3|Q08AL4|Q5JRT8|Q9UKC3	ENST00000432825.2	37	CCDS47966.1	.	.	.	.	.	.	.	.	.	.	G	15.64	2.893263	0.52121	.	.	ENSG00000147912	ENST00000432825;ENST00000541829	T;T	0.79845	-1.31;-1.31	5.36	5.36	0.76844	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.418647	0.25549	N	0.029907	T	0.66066	0.2752	N	0.12182	0.205	0.37402	D	0.91289	B;B;B	0.19706	0.011;0.038;0.013	B;B;B	0.20955	0.017;0.032;0.032	T	0.65228	-0.6219	10	0.30854	T	0.27	-5.8176	13.6118	0.62083	0.0:0.1557:0.8442:0.0	.	651;297;772	Q59F51;Q08AL4;Q9UK96	.;.;FBX10_HUMAN	V	772;297	ENSP00000403802:A772V;ENSP00000441307:A297V	ENSP00000403802:A772V	A	-	2	0	FBXO10	37508321	0.805000	0.28982	0.991000	0.47740	0.956000	0.61745	2.188000	0.42612	2.496000	0.84212	0.563000	0.77884	GCC	FBXO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052472.3		1.803595	0	-12	35	0	0	1	0		3	6.853114	28	0.096774
COL12A1	1303	broad.mit.edu	hg19	6	75890813	75890813	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr6:75890813G>A	ENST00000322507.8	-	11	2315	c.2006C>T	c.(2005-2007)gCg>gTg	p.A669V	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.A669V|COL12A1_ENST00000483888.2_Missense_Mutation_p.A669V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	669	Fibronectin type-III 3.	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169					ATCCCCAGCCGCTTCCTTGTA	0.458	0	85.0	87.0	86.0	6	75890813	1977	4161	6138	SO:0001583	missense	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799	"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L	9143499	Standard	XM_006715334	Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.2006C>T	6.37:g.75890813G>A	ENSP00000325146:p.Ala669Val	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	ENST00000322507.8	37	CCDS43482.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	12.12	1.842601	0.32606	5.06E-4	0.0	ENSG00000111799	ENST00000322507;ENST00000432784;ENST00000416123;ENST00000483888	T;T;T	0.56275	0.47;0.47;0.47	5.98	4.21	0.49690	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.168103	0.40908	N	0.000992	T	0.23649	0.0572	L	0.43646	1.37	0.28392	N	0.919033	B;B	0.34214	0.08;0.442	B;B	0.33568	0.086;0.166	T	0.16100	-1.0414	10	0.13853	T	0.58	.	14.2403	0.65952	0.0902:0.0:0.9098:0.0	.	669;669	D6RGG3;Q99715	.;COCA1_HUMAN	V	669	ENSP00000325146:A669V;ENSP00000412864:A669V;ENSP00000421216:A669V	ENSP00000325146:A669V	A	-	2	0	COL12A1	75947533	0.511000	0.26179	0.076000	0.20297	0.403000	0.30841	2.140000	0.42159	0.870000	0.35726	0.650000	0.86243	GCG	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3		87.267866	0	-9	55	0	0	1	0	NM_004370	26	90.193657	6	0.812500
MYO1C	4641	ucsc.edu	hg19	17	1371413	1371413	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f																										AACAGGCACCGCATACTGGGG	0.652	0	35.0	35.0	35.0	17	1371413	2203	4300	6503	SO:0001583	missense	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879	"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538			9119401	Standard	NM_001080779	Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.2660C>T	17.37:g.1371413G>A	ENSP00000459174:p.Ala887Val	Q14778	ENST00000575158.1	37	CCDS11003.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.968607	0.53614	.	.	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.7	5.7	0.88788	Myosin tail 2 (1);	0.101437	0.64402	D	0.000002	T	0.53142	0.1778	M	0.69248	2.105	0.58432	D	0.999998	P;P	0.50528	0.766;0.936	B;P	0.48334	0.206;0.574	T	0.56523	-0.7965	10	0.62326	D	0.03	.	18.8353	0.92159	0.0:0.0:1.0:0.0	.	922;903	O00159;O00159-3	MYO1C_HUMAN;.	V	922;903;903;887;898	ENSP00000352834:A922V;ENSP00000412197:A903V;ENSP00000354283:A887V;ENSP00000437685:A898V	ENSP00000352834:A922V	A	-	2	0	MYO1C	1318163	1.000000	0.71417	0.154000	0.22540	0.198000	0.23893	6.511000	0.73733	2.688000	0.91661	0.655000	0.94253	GCG	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2				-4	29						4		24	
IL1R1	3554	broad.mit.edu	hg19	2	102793054	102793054	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr2:102793054G>C	ENST00000410023.1	+	12	1863	c.1545G>C	c.(1543-1545)tgG>tgC	p.W515C	IL1R1_ENST00000409929.1_Missense_Mutation_p.W484C|IL1R1_ENST00000424272.1_3'UTR|IL1R1_ENST00000233946.3_Missense_Mutation_p.W515C|AC007271.3_ENST00000428188.1_RNA|IL1R1_ENST00000409589.1_Intron			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	515	TIR.	innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding	breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					CTATCCGCTGGTCAGGGGACT	0.458	0	58.0	57.0	58.0	2	102793054	2203	4300	6503	SO:0001583	missense	M27492	CCDS2055.1, CCDS74547.1	2q12	2013-01-29			ENSG00000115594	ENSG00000115594	"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5993	protein-coding gene	gene with protein product		147810		IL1R, IL1RA	1833184, 10191101	Standard	XM_005263929	Approved	D2S1473, CD121A	uc002tbr.3	P14778	OTTHUMG00000130783	ENST00000410023.1:c.1545G>C	2.37:g.102793054G>C	ENSP00000386380:p.Trp515Cys	Q587I7	ENST00000410023.1	37	CCDS2055.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.801015	0.50315	.	.	ENSG00000115594	ENST00000409929;ENST00000410023;ENST00000233946	T;T;T	0.03553	3.89;3.89;3.89	5.61	5.61	0.85477	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.058834	0.64402	D	0.000001	T	0.25494	0.0620	M	0.89095	3.005	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.02339	-1.1174	10	0.87932	D	0	.	19.6511	0.95812	0.0:0.0:1.0:0.0	.	484;515	B8ZZW4;P14778	.;IL1R1_HUMAN	C	484;515;515	ENSP00000386776:W484C;ENSP00000386380:W515C;ENSP00000233946:W515C	ENSP00000233946:W515C	W	+	3	0	IL1R1	102159486	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	7.124000	0.77185	2.646000	0.89796	0.563000	0.77884	TGG	IL1R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253299.1		15.368692	0	-4	30	0	0	1	0		5	16.013290	12	0.294118
ALKBH7	84266	broad.mit.edu	hg19	19	6374569	6374569	+	Frame_Shift_Del	DEL	T	T	-			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:6374569delT	ENST00000245812.3	+	3	860	c.472delT	c.(472-474)ttgfs	p.L159fs	ALKBH7_ENST00000596657.1_Frame_Shift_Del_p.L17fs|ALKBH7_ENST00000599849.1_Frame_Shift_Del_p.L98fs	NM_032306.3	NP_115682.1	Q9BT30	ALKB7_HUMAN	alkB, alkylation repair homolog 7 (E. coli)	159			extracellular region|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	breast(2)|kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6					GCTGGAACTCTTGCTGGAGCC	0.642	0	41.0	50.0	47.0	19	6374569	2203	4300	6503	SO:0001589	frameshift_variant	AY427650	CCDS12163.1	19p13.3	2008-02-05	2006-02-09	2006-02-09		ENSG00000125652	"""Alkylation repair homologs"""	21306	protein-coding gene	gene with protein product		613305	"""spermatogenesis associated 11"""	SPATA11	12477932	Standard	NM_032306	Approved	MGC10974	uc002meo.2	Q9BT30		ENST00000245812.3:c.472delT	19.37:g.6374569delT	ENSP00000245812:p.Leu159fs	B2R4U9|Q53FF3	ENST00000245812.3	37	CCDS12163.1																																																																																			ALKBH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453036.1	.	.		-10	37					NM_032306	22		16	0.58
BCL2L12	83596	broad.mit.edu	hg19	19	50173670	50173670	+	Frame_Shift_Del	DEL	G	G	-			TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr19:50173670delG	ENST00000246785.3	+	6	1137	c.879delG	c.(877-879)ctgfs	p.L293fs	BCL2L12_ENST00000246784.3_3'UTR|BCL2L12_ENST00000441864.2_Frame_Shift_Del_p.L292fs	NM_001040668.1|NM_138639.1	NP_001035758.1|NP_619580.1	Q9HB09	B2L12_HUMAN	BCL2-like 12 (proline rich)	293		apoptosis			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	8		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.000681)|GBM - Glioblastoma multiforme(134;0.0214)	TGGCCGGGCTGGGGGGCACCC	0.751	0	4.0	4.0	4.0	19	50173670	2030	3968	5998	SO:0001589	frameshift_variant	AF289220	CCDS12776.1, CCDS46144.1, CCDS74424.1, CCDS74423.1	19q13.3	2014-03-07				ENSG00000126453		13787	protein-coding gene	gene with protein product		610837				Standard	NM_001040668	Approved		uc002ppa.3	Q9HB09		ENST00000246785.3:c.879delG	19.37:g.50173670delG	ENSP00000246785:p.Leu293fs	Q3SY11|Q3SY13|Q96I96|Q9HB08	ENST00000246785.3	37	CCDS12776.1																																																																																			BCL2L12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465770.1	.	.		3	5					NM_052842	2		4	0.33
BAP1	8314	broad.mit.edu	hg19	3	52441329	52441383	+	Splice_Site	DEL	GGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCA	GGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCA	-	rs139750149	by1000genomes	TCGA-V4-A9E7-01A-11D-A39W-08	TCGA-V4-A9E7-10A-01D-A39Z-08							Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	309cafa3-de70-4401-a24d-2e15d53febb5	e4cd00b7-7e32-42a8-9bab-37da50d36e1f	g.chr3:52441329_52441383delGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCA	ENST00000460680.1	-	7	909_912	c.438_441delTGGGAGTAGGGGGAGTATCATTTTTTGGGCCCTGACTCTGTTTTTCCCCAGGCCC	c.(436-441)agtggg>ag	p.SG146fs	BAP1_ENST00000296288.5_Splice_Site_p.SG146fs	NM_004656.2	NP_004647.1	Q99496	RING2_HUMAN	BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase)	0	Interaction with HIP2.	anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)	GGCGTGGCTCGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCACCCCACATCA	0.580	2									SO:0001630	splice_region_variant	AF045581	CCDS2853.1	3p21.31-p21.2	2014-09-17			ENSG00000163930	ENSG00000163930		950	protein-coding gene	gene with protein product		603089			9528852	Standard	NM_004656	Approved	hucep-6, KIAA0272, UCHL2	uc003ddx.4	Q92560	OTTHUMG00000158392	ENST00000460680.1:c.438-1TGGGAGTAGGGGGAGTATCATTTTTTGGGCCCTGACTCTGTTTTTCCCCAGGCCC>-	3:g.52441329_52441383delGGGCCTGGGGAAAAACAGAGTCAGGGCCCAAAAAATGATACTCCCCCTACTCCCA		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	ENST00000460680.1		CCDS2853.1																																																																																			BAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350895.1	3.242000e+01	1.002600e+02		-7	49						25		5	8.650000e-01
