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	IsMicroSat	NumberOfSatRepeats	IsAdjacentToRepeatRegion	site	is_in_m2pon
KBTBD4	55709	broad.mit.edu	37	11	47595092	47595094	+	In_Frame_Del	DEL	CGA	CGA	-			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	CGA	CGA	-	-	CGA	CGA	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:47595092_47595094delCGA	ENST00000526005.1	-	4	1098_1100	c.945_947delTCG	c.(943-948)cctcgg>ccg	p.R316del	NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000533290.1_In_Frame_Del_p.R341del|KBTBD4_ENST00000395288.2_In_Frame_Del_p.R316del|KBTBD4_ENST00000430070.2_In_Frame_Del_p.R332del			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	316										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						GAGCCGGTCCCGAGGCAAAGGAG	0.571		NA											False	1	True	11:47595092	0
RBM14-RBM4	0	broad.mit.edu	37	11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-	-	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	ENST00000412278.2	+	2	876_896	c.781_801delGCTGCTGCTGCAGCAGCAGCC	c.(781-801)gctgctgctgcagcagcagccdel	p.AAAAAAA261del	RBM4_ENST00000578778.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000408993.2_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000514361.3_In_Frame_Del_p.AAAAAAA261del|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000515838.2_3'UTR|RBM4_ENST00000409406.1_In_Frame_Del_p.AAAAAAA286del|RBM4_ENST00000503028.2_In_Frame_Del_p.AAAAAAA286del	NM_001198845.1	NP_001185774.1				NA											NA						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615		NA											False	1	True	11:66411364	0
HERC2P2	0	broad.mit.edu	37	15	23283336	23283337	+	RNA	INS	-	-	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	-	-	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr15:23283336_23283337insT	ENST00000560464.1	-	0	5097										NA											NA						CTTCCCAATGAGAATCTCTGAA	0.426		NA											False	0	False	15:23283336	0
NCOA3	8202	broad.mit.edu	37	20	46279833	46279834	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	GC	GC	-	-	GC	GC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:46279833_46279834delGC	ENST00000372004.3	+	20	3963_3964	c.3747_3748delGC	c.(3745-3750)cagcaafs	p.QQ1249fs	NCOA3_ENST00000371998.3_Frame_Shift_Del_p.QQ1253fs|NCOA3_ENST00000341724.6_Frame_Shift_Del_p.QQ1179fs|NCOA3_ENST00000371997.3_Frame_Shift_Del_p.QQ1244fs	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagca	0.55		NA											False	1	True	20:46279833	0
IRS4	8471	broad.mit.edu	37	X	107979510	107979512	+	In_Frame_Del	DEL	GCC	GCC	-	rs2073114	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	GCC	GCC	-	-	GCC	GCC	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:107979510_107979512delGCC	ENST00000372129.2	-	1	139_141	c.63_65delGGC	c.(61-66)gcggca>gca	p.21_22AA>A		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	21	Poly-Ala.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AGCTGCCGCTGCCGCCGCTGCTG	0.616		NA											False	2	True	X:107979510	0
DBR1	51163	broad.mit.edu	37	3	137880741	137880743	+	In_Frame_Del	DEL	TCG	TCG	-	rs2622736	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	TCG	TCG	-	-	TCG	TCG	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:137880741_137880743delTCG	ENST00000260803.4	-	8	1776_1778	c.1623_1625delCGA	c.(1621-1626)gacgat>gat	p.541_542DD>D	DBR1_ENST00000505015.2_In_Frame_Del_p.307_308DD>D	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	541						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						TTAAGCTGCATCGTCATCATCAT	0.394		NA											False	1	False	3:137880741	0
IGF2R	3482	broad.mit.edu	37	6	160465585	160465585	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:160465585C>T	ENST00000356956.1	+	13	1809	c.1661C>T	c.(1660-1662)tCt>tTt	p.S554F		NM_000876.2	NP_000867.2	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	554					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TTTATTTCCTCTCCCATGAAA	0.348		NA											False	0	False	6:160465585	0
CBWD3	445571	broad.mit.edu	37	9	70871889	70871889	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294		NA											False	0	False	9:70871889	0
ZFYVE26	23503	broad.mit.edu	37	14	68260952	68260952	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:68260952G>A	ENST00000347230.4	-	13	2475	c.2337C>T	c.(2335-2337)ggC>ggT	p.G779G	ZFYVE26_ENST00000555452.1_Silent_p.G779G	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	779					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CTCTGTCTCGGCCATCTACAG	0.458		NA											False	0	False	14:68260952	0
HIF3A	64344	broad.mit.edu	37	19	46807230	46807230	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:46807230G>A	ENST00000244303.6	+	2	201	c.41G>A	c.(40-42)tGt>tAt	p.C14Y	HIF3A_ENST00000420102.2_Missense_Mutation_p.C32Y|HIF3A_ENST00000339613.2_5'UTR|HIF3A_ENST00000377670.4_Silent_p.L34L|HIF3A_ENST00000300862.3_Silent_p.L32L|HIF3A_ENST00000472815.1_Missense_Mutation_p.C14Y|HIF3A_ENST00000600383.1_Missense_Mutation_p.C14Y	NM_022462.4	NP_071907.4	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		CCGAGGTGCTGTACCAGCTGG	0.672		NA											False	0	False	19:46807230	0
PTRF	284119	broad.mit.edu	37	17	40557353	40557353	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:40557353C>T	ENST00000357037.5	-	2	944	c.525G>A	c.(523-525)tcG>tcA	p.S175S		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	175					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding	p.S175S(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GCAGCGCCTCCGACTCTTTCA	0.647		NA											False	0	False	17:40557353	0
ATP2B1	490	broad.mit.edu	37	12	90036041	90036041	+	Missense_Mutation	SNP	T	T	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:90036041T>A	ENST00000428670.3	-	3	756	c.300A>T	c.(298-300)caA>caT	p.Q100H	ATP2B1_ENST00000261173.2_Missense_Mutation_p.Q100H|ATP2B1_ENST00000359142.3_Missense_Mutation_p.Q100H|ATP2B1_ENST00000348959.3_Missense_Mutation_p.Q100H			P20020	AT2B1_HUMAN	ATPase, Ca++ transporting, plasma membrane 1	100					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						CCCATACTAATTGAAGAAAGG	0.343		NA											False	0	False	12:90036041	0
SLCO4A1	28231	broad.mit.edu	37	20	61300301	61300301	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:61300301C>T	ENST00000217159.1	+	11	2101	c.1896C>T	c.(1894-1896)atC>atT	p.I632I	SLCO4A1_ENST00000370507.1_Silent_p.I632I|SLCO4A1_ENST00000470412.1_3'UTR	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	632					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CGGGGCCCATCGCCTTCGGCT	0.662		NA									OREG0026115	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	False	0	False	20:61300301	0
PDZRN4	29951	broad.mit.edu	37	12	41966704	41966704	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:41966704G>A	ENST00000298919.7	+	10	1731	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q	PDZRN4_ENST00000402685.2_Missense_Mutation_p.R708Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R450Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	708	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GGAGGATTCCGGAATTATAAC	0.443		NA											False	0	False	12:41966704	0
ANKRD34A	284615	broad.mit.edu	37	1	145474036	145474036	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145474036C>T	ENST00000323397.4	+	4	2001	c.708C>T	c.(706-708)cgC>cgT	p.R236R		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	236	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AACCACCACGCCATCCCCCAA	0.622		NA											False	0	False	1:145474036	0
DNAH10	196385	broad.mit.edu	37	12	124317833	124317833	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:124317833C>A	ENST00000409039.3	+	26	4389	c.4364C>A	c.(4363-4365)cCt>cAt	p.P1455H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1455	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTTGTGGGGCCTTTTCTGCAA	0.433		NA											False	0	True	12:124317833	0
RIMS4	140730	broad.mit.edu	37	20	43386349	43386349	+	Missense_Mutation	SNP	C	C	T	rs141614672	byFrequency	TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:43386349C>T	ENST00000372851.3	-	4	479	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	RIMS4_ENST00000541604.2_Missense_Mutation_p.R139Q	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4	138	C2.				exocytosis|neurotransmitter transport	cell junction|synapse		p.R138Q(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				TGTCAGTCCCCGAGCCTGGAT	0.597		NA											False	0	True	20:43386349	0
SYT10	341359	broad.mit.edu	37	12	33538128	33538128	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:33538128C>T	ENST00000228567.3	-	4	1472	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	SYT10_ENST00000535526.1_Silent_p.A211A	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	392	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					TAATATCCATCGCCTTCAGAT	0.413		NA											False	0	False	12:33538128	0
PCDHA5	0	broad.mit.edu	37	5	140202956	140202956	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:140202956C>T	ENST00000529859.1	+	1	1596	c.1596C>T	c.(1594-1596)ttC>ttT	p.F532F	PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000378126.3_Silent_p.F532F|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Silent_p.F532F	NM_018908.2	NP_061731.1				NA										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGCAGTTCCAGGTGAGCG	0.692		NA											False	0	False	5:140202956	0
KRT34	3885	broad.mit.edu	37	17	39537409	39537409	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39537409G>A	ENST00000394001.1	-	3	643	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AGGATCCTGCGTATGCTGTTG	0.562		NA											False	0	False	17:39537409	0
RPS6KB1	6198	broad.mit.edu	37	17	58009016	58009016	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:58009016G>A	ENST00000225577.4	+	7	642	c.621G>A	c.(619-621)ggG>ggA	p.G207G	RPS6KB1_ENST00000406116.3_Silent_p.G207G|RPS6KB1_ENST00000393021.3_Silent_p.G154G|RPS6KB1_ENST00000443572.2_Silent_p.G184G	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	207	Protein kinase.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			TGGCTTTGGGGCATTTACATC	0.368		NA											False	0	True	17:58009016	0
CILP	8483	broad.mit.edu	37	15	65489789	65489789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr15:65489789C>T	ENST00000261883.4	-	9	3001	c.2835G>A	c.(2833-2835)tgG>tgA	p.W945*		NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	945					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						TCGGCTTTGGCCACCATGCCA	0.532		NA											False	0	False	15:65489789	0
ACIN1	22985	broad.mit.edu	37	14	23531399	23531399	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:23531399G>A	ENST00000262710.1	-	16	3578	c.3251C>T	c.(3250-3252)gCt>gTt	p.A1084V	ACIN1_ENST00000605057.1_Missense_Mutation_p.A1026V|ACIN1_ENST00000557515.1_Missense_Mutation_p.A325V|ACIN1_ENST00000457657.1_Missense_Mutation_p.A1044V|ACIN1_ENST00000357481.2_Missense_Mutation_p.A326V|ACIN1_ENST00000555053.1_Missense_Mutation_p.A1071V|ACIN1_ENST00000397341.3_Missense_Mutation_p.A326V|ACIN1_ENST00000338631.6_Missense_Mutation_p.A357V	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1084					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GGCATAGTCAGCACAAAGGAA	0.537		NA											False	0	False	14:23531399	0
KRAS	3845	broad.mit.edu	37	12	25362826	25362826	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:25362826T>C	ENST00000311936.3	-	5	661	c.470A>G	c.(469-471)tAt>tGt	p.Y157C	KRAS_ENST00000256078.4_3'UTR|KRAS_ENST00000557334.1_Missense_Mutation_p.Y44C	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	157					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			AACTAATGTATAGAAGGCATC	0.284		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25362826	0
PROS1	5627	broad.mit.edu	37	3	93611912	93611912	+	Nonsense_Mutation	SNP	G	G	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:93611912G>C	ENST00000394236.3	-	10	1336	c.1020C>G	c.(1018-1020)taC>taG	p.Y340*	PROS1_ENST00000407433.1_Nonsense_Mutation_p.Y209*	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	340	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TAGATTCTGCGTACAGTATCA	0.393		NA											False	0	False	3:93611912	0
GPR179	440435	broad.mit.edu	37	17	36485458	36485458	+	Missense_Mutation	SNP	A	A	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:36485458A>G	ENST00000342292.4	-	11	4014	c.3994T>C	c.(3994-3996)Tcc>Ccc	p.S1332P		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1332						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GACCCAGGGGACAGACCTCCT	0.607		NA											False	0	True	17:36485458	0
PKNOX2	63876	broad.mit.edu	37	11	125299995	125299995	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:125299995G>A	ENST00000298282.9	+	12	1421	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	PKNOX2_ENST00000542175.1_Missense_Mutation_p.V320M|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	384						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CGCTGCGGGGGTGCTGCAGCA	0.622		NA											False	0	True	11:125299995	0
FXYD3	5349	broad.mit.edu	37	19	35613737	35613737	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:35613737G>A	ENST00000435734.2	+	7	425	c.166G>A	c.(166-168)Gtc>Atc	p.V56I	FXYD3_ENST00000406988.1_Missense_Mutation_p.V56I|FXYD3_ENST00000406242.3_Missense_Mutation_p.V56I|FXYD3_ENST00000346446.5_Missense_Mutation_p.V56I|FXYD3_ENST00000344013.6_Missense_Mutation_p.V56I|FXYD3_ENST00000604621.1_Missense_Mutation_p.V56I|FXYD3_ENST00000603181.1_Missense_Mutation_p.V56I|FXYD3_ENST00000603524.1_Missense_Mutation_p.V85I|FXYD3_ENST00000604255.1_Missense_Mutation_p.V113I|FXYD3_ENST00000605677.1_Missense_Mutation_p.V56I|FXYD3_ENST00000535103.1_Missense_Mutation_p.V113I|FXYD3_ENST00000604804.1_Missense_Mutation_p.V85I|FXYD3_ENST00000604404.1_Missense_Mutation_p.V56I|FXYD3_ENST00000605550.1_Missense_Mutation_p.V56I	NM_001136011.1|NM_021910.2	NP_001129483.1|NP_068710.1	Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	56						chloride channel complex|integral to plasma membrane	chloride channel activity	p.V56L(1)		endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CATCATCATCGTCATGAGTGA	0.637		NA											False	0	True	19:35613737	0
SORBS1	10580	broad.mit.edu	37	10	97096368	97096368	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:97096368G>A	ENST00000371247.2	-	30	3738	c.3549C>T	c.(3547-3549)agC>agT	p.S1183S	SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371246.2_Silent_p.S1042S|SORBS1_ENST00000371227.4_Silent_p.S1137S|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000277982.5_Silent_p.S1042S|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000361941.3_Silent_p.S1183S			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1183					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGGAAAAGCGCTACCCAGGG	0.617		NA											False	0	False	10:97096368	0
OR5H1	26341	broad.mit.edu	37	3	97852022	97852022	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:97852022G>T	ENST00000354565.2	+	1	481	c.481G>T	c.(481-483)Gga>Tga	p.G161*	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AATCCATGAAGGATTTTTATT	0.358		NA											False	0	False	3:97852022	0
SYCP2L	221711	broad.mit.edu	37	6	10894138	10894138	+	Silent	SNP	A	A	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:10894138A>T	ENST00000283141.6	+	3	413	c.117A>T	c.(115-117)ggA>ggT	p.G39G	RP11-637O19.3_ENST00000480294.1_3'UTR|SYCP2L_ENST00000543878.1_5'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	39						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ATGATAAAGGATTTCAGAAAA	0.299		NA											False	0	True	6:10894138	0
NOX4	50507	broad.mit.edu	37	11	89088203	89088203	+	Nonsense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:89088203G>A	ENST00000535633.1	-	13	1382	c.1072C>T	c.(1072-1074)Cga>Tga	p.R358*	NOX4_ENST00000532825.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000542487.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000527956.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000424319.1_Nonsense_Mutation_p.R358*|NOX4_ENST00000534731.1_Nonsense_Mutation_p.R382*|NOX4_ENST00000528341.1_Nonsense_Mutation_p.R357*|NOX4_ENST00000343727.5_Nonsense_Mutation_p.R358*|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Nonsense_Mutation_p.R403*|NOX4_ENST00000531342.1_Nonsense_Mutation_p.R75*|NOX4_ENST00000263317.4_Nonsense_Mutation_p.R382*|NOX4_ENST00000375979.3_Nonsense_Mutation_p.R75*|NOX4_ENST00000527626.1_Nonsense_Mutation_p.R216*	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	382	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.R382*(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTAAATCTCGAAATCGTTCT	0.328		NA											False	0	True	11:89088203	0
DSC3	1825	broad.mit.edu	37	18	28610959	28610959	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr18:28610959G>A	ENST00000434452.1	-	3	488	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	DSC3_ENST00000360428.4_Silent_p.L112L	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	112					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTCTAGCAGCACAGTAACC	0.338		NA											False	0	False	18:28610959	0
ZFYVE26	23503	broad.mit.edu	37	14	68238816	68238816	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:68238816G>A	ENST00000347230.4	-	28	5570	c.5432C>T	c.(5431-5433)cCg>cTg	p.P1811L	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.P1811L	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1811					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGTCTCATCCGGTACCCACTG	0.562		NA											False	0	False	14:68238816	0
PCDHB7	0	broad.mit.edu	37	5	140553979	140553979	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:140553979C>T	ENST00000231137.3	+	1	1737	c.1563C>T	c.(1561-1563)taC>taT	p.Y521Y		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		521	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGGACTACGAGGCCCTGC	0.711		NA											False	0	False	5:140553979	0
SQLE	6713	broad.mit.edu	37	8	126030321	126030321	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr8:126030321G>A	ENST00000265896.5	+	8	2123	c.1225G>A	c.(1225-1227)Gca>Aca	p.A409T	SQLE_ENST00000523430.1_Missense_Mutation_p.A314T	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	409					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	TTTGGGAGACGCATATAATAT	0.353		NA											False	0	False	8:126030321	0
PPP1R16B	26051	broad.mit.edu	37	20	37547257	37547257	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:37547257C>G	ENST00000299824.1	+	11	1841	c.1652C>G	c.(1651-1653)gCc>gGc	p.A551G	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A509G	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	551					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAGTTCAAGGCCCCCATAGAG	0.572		NA											False	0	True	20:37547257	0
BCORL1	63035	broad.mit.edu	37	X	129190051	129190051	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:129190051C>T	ENST00000540052.1	+	12	5120	c.5076C>T	c.(5074-5076)taC>taT	p.Y1692Y	BCORL1_ENST00000218147.7_Silent_p.Y1692Y|BCORL1_ENST00000303743.5_Silent_p.Y1766Y|BCORL1_ENST00000359304.2_Silent_p.Y1562Y	NM_021946.4	NP_068765.3	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1692					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGTGCGGTACGAGCCAGACC	0.607		NA											False	0	False	X:129190051	0
PCDH1	5097	broad.mit.edu	37	5	141248263	141248263	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:141248263G>A	ENST00000287008.3	-	2	921	c.774C>T	c.(772-774)ccC>ccT	p.P258P	PCDH1_ENST00000456271.1_Silent_p.P246P|PCDH1_ENST00000503492.1_Silent_p.P258P|PCDH1_ENST00000394536.3_Silent_p.P258P|PCDH1_ENST00000536585.1_Silent_p.P236P	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	258	Cadherin 2.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGGCGCGTGGGGGGCTGCCGC	0.607		NA											False	0	True	5:141248263	0
OR52H1	390067	broad.mit.edu	37	11	5565922	5565922	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:5565922G>A	ENST00000322653.4	-	1	857	c.832C>T	c.(832-834)Cgc>Tgc	p.R278C	HBG2_ENST00000380259.2_Intron	NM_001005289.1	NP_001005289.1	Q8NGJ2	O52H1_HUMAN	olfactory receptor, family 52, subfamily H, member 1	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAAGGTGCGAGAGACATTG	0.483		NA											False	0	True	11:5565922	0
CC2D2B	387707	broad.mit.edu	37	10	97791640	97791640	+	Nonsense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:97791640C>T	ENST00000344386.3	+	9	1008	c.844C>T	c.(844-846)Caa>Taa	p.Q282*	ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1-AS1_ENST00000449197.1_RNA|CC2D2B_ENST00000410012.2_Nonsense_Mutation_p.Q361*|ENTPD1-AS1_ENST00000451364.1_RNA|CC2D2B_ENST00000371198.2_3'UTR|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000452728.1_RNA|RP11-690P14.4_ENST00000475252.2_3'UTR	NM_001001732.3	NP_001001732.2	Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B	282										large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		TGCTGTTTATCAAACTGGAAT	0.393		NA											False	0	True	10:97791640	0
PLD2	5338	broad.mit.edu	37	17	4712837	4712837	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:4712837G>A	ENST00000263088.6	+	7	736	c.605G>A	c.(604-606)cGc>cAc	p.R202H	PLD2_ENST00000572940.1_Missense_Mutation_p.R202H	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	202					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GACTTGGGCCGCAAAGGACTG	0.567		NA											False	0	False	17:4712837	0
CRB1	23418	broad.mit.edu	37	1	197411423	197411423	+	Splice_Site	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:197411423G>A	ENST00000367400.3	+	11	4140		c.e11+1		CRB1_ENST00000367399.2_Splice_Site|CRB1_ENST00000535699.1_Splice_Site|RP11-75C23.1_ENST00000422250.1_RNA|CRB1_ENST00000544212.1_Splice_Site|CRB1_ENST00000538660.1_Splice_Site|CRB1_ENST00000367397.1_3'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	NA					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CGAGGTGGACGTAAGCAGCCT	0.478		NA											False	0	False	1:197411423	0
IFT140	9742	broad.mit.edu	37	16	1612009	1612009	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:1612009G>A	ENST00000426508.2	-	18	2539	c.2176C>T	c.(2176-2178)Cct>Tct	p.P726S	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	726										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				TAGTAATAAGGCACTTCCATC	0.557		NA											False	0	False	16:1612009	0
NDUFV2	4729	broad.mit.edu	37	18	9122540	9122540	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr18:9122540G>A	ENST00000400033.1	+	6	456	c.339G>A	c.(337-339)atG>atA	p.M113I	RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR|RP11-143J12.2_ENST00000582375.1_RNA|RP11-143J12.2_ENST00000583081.1_RNA|NDUFV2_ENST00000318388.6_Missense_Mutation_p.M110I			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	110					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	TACCTCCAATGAGAGTATATG	0.328		NA											False	0	False	18:9122540	0
GFPT1	2673	broad.mit.edu	37	2	69556893	69556893	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:69556893G>A	ENST00000357308.4	-	16	1698	c.1520C>T	c.(1519-1521)gCc>gTc	p.A507V	GFPT1_ENST00000361060.4_Missense_Mutation_p.A489V	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	507	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						CATCATAAGGGCAAACATCAC	0.408		NA											False	0	True	2:69556893	0
USH2A	7399	broad.mit.edu	37	1	216144042	216144042	+	Silent	SNP	G	G	A	rs147615382		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:216144042G>A	ENST00000366943.2	-	36	7268	c.6882C>T	c.(6880-6882)taC>taT	p.Y2294Y	USH2A_ENST00000307340.3_Silent_p.Y2294Y			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2294	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GAGCAAATCCGTAAGCACGAT	0.418		NA								HNSCC(13;0.011)			False	0	False	1:216144042	0
SUV39H2	79723	broad.mit.edu	37	10	14941644	14941644	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr10:14941644C>T	ENST00000313519.5	+	3	1007	c.776C>T	c.(775-777)gCg>gTg	p.A259V	SUV39H2_ENST00000378325.3_Missense_Mutation_p.A139V|SUV39H2_ENST00000354919.6_Missense_Mutation_p.A319V|DCLRE1C_ENST00000378289.4_Intron	NM_001193425.1|NM_024670.3	NP_001180354.1|NP_078946.1	Q9H5I1	SUV92_HUMAN	suppressor of variegation 3-9 homolog 2 (Drosophila)	319	SET.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						ACAGTGGATGCGGCTCGATAC	0.408		NA											False	0	False	10:14941644	0
C6orf118	168090	broad.mit.edu	37	6	165715133	165715133	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:165715133G>A	ENST00000543069.1	-	2	947	c.366C>T	c.(364-366)ctC>ctT	p.L122L	C6orf118_ENST00000230301.8_Silent_p.L226L			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	226										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CTTGCTTGGCGAGCACTTCCT	0.622		NA											False	0	False	6:165715133	0
OR51G1	79324	broad.mit.edu	37	11	4945382	4945382	+	Missense_Mutation	SNP	T	T	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:4945382T>A	ENST00000321961.2	-	1	255	c.188A>T	c.(187-189)tAt>tTt	p.Y63F	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCCCAAGAAATAGTACATGGG	0.483		NA											False	0	True	11:4945382	0
B4GALNT3	283358	broad.mit.edu	37	12	653515	653515	+	Missense_Mutation	SNP	G	G	A	rs141528374		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:653515G>A	ENST00000266383.5	+	4	375	c.362G>A	c.(361-363)cGt>cAt	p.R121H	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	121						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TTCCGGGGCCGTGCCAACCTG	0.627		NA											False	0	False	12:653515	0
GDI1	2664	broad.mit.edu	37	X	153670920	153670920	+	Silent	SNP	C	C	T	rs76578139		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:153670920C>T	ENST00000447750.2	+	11	1580	c.1245C>T	c.(1243-1245)aaC>aaT	p.N415N	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	415					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACCTGCAACGACATCAAAG	0.522		NA											False	0	False	X:153670920	0
OR51F2	119694	broad.mit.edu	37	11	4843156	4843156	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:4843156T>C	ENST00000322110.5	+	1	606	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGAGGTTGTCCTTCTGCAG	0.448		NA											False	0	False	11:4843156	0
PSG7	5676	broad.mit.edu	37	19	43433817	43433817	+	RNA	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:43433817C>T	ENST00000406070.2	-	0	582				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)	NA					female pregnancy	extracellular region					NA		Prostate(69;0.00682)				TCACAGCCTCCGTGGCCTCCC	0.532		NA											False	0	False	19:43433817	0
KEAP1	9817	broad.mit.edu	37	19	10610147	10610147	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:10610147G>C	ENST00000171111.5	-	2	1110	c.563C>G	c.(562-564)gCc>gGc	p.A188G	KEAP1_ENST00000393623.2_Missense_Mutation_p.A188G|KEAP1_ENST00000588024.1_5'UTR	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	188	BACK.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			AGCGAAGTTGGCGATGCCGAT	0.597		NA											False	0	False	19:10610147	0
C1orf105	92346	broad.mit.edu	37	1	172437641	172437641	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:172437641C>T	ENST00000367727.4	+	7	657	c.459C>T	c.(457-459)caC>caT	p.H153H	C1orf105_ENST00000367725.4_Silent_p.H143H|C1orf105_ENST00000367726.1_3'UTR	NM_139240.3	NP_640333.3	O95561	CA105_HUMAN	chromosome 1 open reading frame 105	153										large_intestine(1)|lung(12)|prostate(1)|skin(1)	15						CTGTCTTCCACGGATTACTGA	0.478		NA											False	0	False	1:172437641	0
NRN1L	123904	broad.mit.edu	37	16	67920029	67920029	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:67920029G>A	ENST00000339176.3	+	3	464	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	CTC-479C5.10_ENST00000572067.1_RNA|NRN1L_ENST00000576147.1_Missense_Mutation_p.G49R	NM_198443.1	NP_940845.1	Q496H8	NRN1L_HUMAN	neuritin 1-like	122						anchored to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		GTGCATGTTCGGGAGCGCGGC	0.667		NA											False	0	True	16:67920029	0
OR13C3	138803	broad.mit.edu	37	9	107298219	107298219	+	Silent	SNP	C	C	T	rs145221004		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr9:107298219C>T	ENST00000374781.2	-	1	918	c.876G>A	c.(874-876)ccG>ccA	p.P292P		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGAGACTTCGGTTTCGCAT	0.438		NA											False	0	False	9:107298219	0
NUDT21	11051	broad.mit.edu	37	16	56468701	56468701	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:56468701T>C	ENST00000300291.5	-	5	684	c.512A>G	c.(511-513)cAt>cGt	p.H171R		NM_007006.2	NP_008937.1	O43809	CPSF5_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 21	171	Nudix hydrolase.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						CAACTTCTTATGTTCCTTAGG	0.303		NA											False	0	False	16:56468701	0
HAUS5	23354	broad.mit.edu	37	19	36105981	36105981	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:36105981G>A	ENST00000203166.5	+	5	282	c.257G>A	c.(256-258)cGc>cAc	p.R86H	HAUS5_ENST00000379045.2_Missense_Mutation_p.R86H	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	86					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GCTGTGACCCGCCTGCGGGCA	0.607		NA											False	0	True	19:36105981	0
IRX2	153572	broad.mit.edu	37	5	2749835	2749835	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:2749835C>T	ENST00000382611.6	-	2	564	c.316G>A	c.(316-318)Gcg>Acg	p.A106T	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Missense_Mutation_p.A106T	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	106						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		GGGTAGGCCGCGCTGCCGTAC	0.662		NA											False	0	False	5:2749835	0
ANGPTL5	253935	broad.mit.edu	37	11	101773403	101773403	+	Silent	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:101773403T>C	ENST00000334289.3	-	6	1084	c.489A>G	c.(487-489)acA>acG	p.T163T		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	163	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		AACCACTCGGTGTTTTGGTGA	0.353		NA											False	0	False	11:101773403	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114499	27114499	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:27114499C>T	ENST00000396891.4	-	1	120	c.79G>A	c.(79-81)Ggc>Agc	p.G27S	HIST1H2BK_ENST00000356950.1_Missense_Mutation_p.G27S	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	27					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CGCTTCTTGCCGTCCTTCTTC	0.597		NA											False	0	False	6:27114499	0
FMN2	56776	broad.mit.edu	37	1	240256586	240256586	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:240256586G>A	ENST00000319653.9	+	1	1407	c.1177G>A	c.(1177-1179)Gcg>Acg	p.A393T		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	393					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.A536T(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TGACGCCCCCGCGGCCGCTTC	0.726		NA											False	0	True	1:240256586	0
IGLV5-37	0	broad.mit.edu	37	22	22782329	22782329	+	RNA	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr22:22782329T>C	ENST00000390300.2	+	0	332										NA											NA						AGTCTGAGGATGAGGCTGACT	0.502		NA											False	0	False	22:22782329	0
ZNF831	128611	broad.mit.edu	37	20	57769643	57769643	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr20:57769643G>A	ENST00000371030.2	+	1	3569	c.3569G>A	c.(3568-3570)cGc>cAc	p.R1190H		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1190						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCCTGAGCCGCAGTGTCCCT	0.647		NA											False	0	False	20:57769643	0
RP11-468E2.4	0	broad.mit.edu	37	14	24624885	24624885	+	Missense_Mutation	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:24624885T>C	ENST00000558468.1	+	6	902	c.902T>C	c.(901-903)gTg>gCg	p.V301A	RNF31_ENST00000559275.1_Missense_Mutation_p.V675A|RNF31_ENST00000324103.6_Missense_Mutation_p.V826A|RNF31_ENST00000382687.3_Missense_Mutation_p.V675A						NA											NA						ACCTTCTGTGTGCGCTGCAAG	0.507		NA											False	0	True	14:24624885	0
WNT6	7475	broad.mit.edu	37	2	219735855	219735855	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:219735855G>A	ENST00000233948.3	+	2	404	c.187G>A	c.(187-189)Gca>Aca	p.A63T	WNT6_ENST00000486233.1_Intron	NM_006522.3	NP_006513.1	Q9Y6F9	WNT6_HUMAN	wingless-type MMTV integration site family, member 6	63					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|cornea development in camera-type eye|neuron differentiation|odontogenesis of dentine-containing tooth|positive regulation of gene expression|positive regulation of tooth mineralization|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			large_intestine(1)|ovary(2)|skin(1)	4		Renal(207;0.0474)		Epithelial(149;4.53e-07)|all cancers(144;9.3e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGTGGTGGCAGAGCTAGC	0.682		NA											False	0	False	2:219735855	0
RBM24	221662	broad.mit.edu	37	6	17283114	17283114	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:17283114G>A	ENST00000379052.5	+	2	483	c.247G>A	c.(247-249)Gtg>Atg	p.V83M	RBM24_ENST00000425446.2_Missense_Mutation_p.V25M|RBM24_ENST00000318204.5_Missense_Mutation_p.V38M	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	83	RRM.				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AAAGGCCAACGTGAACCTGGC	0.537		NA											False	0	False	6:17283114	0
NAP1L2	4674	broad.mit.edu	37	X	72434324	72434324	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:72434324G>A	ENST00000373517.3	-	1	360	c.5C>T	c.(4-6)gCc>gTc	p.A2V	NAP1L2_ENST00000536638.1_Intron	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	2					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCTGACTCGGCCATTTTTCA	0.532		NA											False	0	False	X:72434324	0
ACRC	93953	broad.mit.edu	37	X	70823926	70823926	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:70823926G>A	ENST00000373695.1	+	7	1336	c.799G>A	c.(799-801)Gac>Aac	p.D267N	ACRC_ENST00000373696.3_Missense_Mutation_p.D267N			Q96QF7	ACRC_HUMAN	acidic repeat containing	267	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AGCTCCCGACGACAGCAGTGA	0.557		NA											False	0	False	X:70823926	0
KRT1	3848	broad.mit.edu	37	12	53069133	53069133	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:53069133G>A	ENST00000252244.3	-	9	1837	c.1779C>T	c.(1777-1779)ggC>ggT	p.G593G		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	593	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.G593G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						cgccgccgccgcctccagagc	0.721		NA											False	0	True	12:53069133	0
BCL6	604	broad.mit.edu	37	3	187447652	187447652	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:187447652C>T	ENST00000406870.2	-	5	907	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	BCL6_ENST00000450123.2_Missense_Mutation_p.A181T|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.A181T	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	181					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AGGCTGGGGGCAAAGGCTCTG	0.602		NA	"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""								False	0	True	3:187447652	0
FAM133A	286499	broad.mit.edu	37	X	92964906	92964906	+	Nonsense_Mutation	SNP	C	C	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:92964906C>G	ENST00000538690.1	+	5	1049	c.488C>G	c.(487-489)tCa>tGa	p.S163*	FAM133A_ENST00000355813.5_Nonsense_Mutation_p.S163*|FAM133A_ENST00000332647.4_Nonsense_Mutation_p.S163*|FAM133A_ENST00000322139.4_Nonsense_Mutation_p.S163*	NM_001171110.1	NP_001164581.1	Q8N9E0	F133A_HUMAN	family with sequence similarity 133, member A	163	Lys-rich.|Ser-rich.									breast(2)|endometrium(2)|large_intestine(8)|lung(7)|upper_aerodigestive_tract(1)	20						AAAAAGAAGTCAAAGGATGAA	0.363		NA											False	0	True	X:92964906	0
DCX	1641	broad.mit.edu	37	X	110644391	110644391	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356915.2_Missense_Mutation_p.R178C	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	259			R -> C (in SBHX).|R -> L (in SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.R178C(1)|p.R259C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCTTGGGGCGCACAAAGTCC	0.537		NA											False	0	False	X:110644391	0
GTPBP2	54676	broad.mit.edu	37	6	43593543	43593543	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:43593543G>A	ENST00000307126.5	-	4	456	c.457C>T	c.(457-459)Ccc>Tcc	p.P153S	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.P65S	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	153							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			ATCTTCCGGGGCATGTCGCTA	0.552		NA											False	0	True	6:43593543	0
OR10A5	144124	broad.mit.edu	37	11	6867677	6867677	+	Missense_Mutation	SNP	C	C	G			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:6867677C>G	ENST00000299454.4	+	1	795	c.764C>G	c.(763-765)tCt>tGt	p.S255C	OR10A5_ENST00000379831.2_Missense_Mutation_p.S259C			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCTATATATCTTCTAGCCTC	0.433		NA											False	0	True	11:6867677	0
RAMP3	10268	broad.mit.edu	37	7	45222846	45222846	+	Silent	SNP	C	C	T	rs138821752		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr7:45222846C>T	ENST00000242249.4	+	3	320	c.282C>T	c.(280-282)acC>acT	p.T94T	RAMP3_ENST00000496212.1_Silent_p.T94T|RAMP3_ENST00000481345.1_Silent_p.T94T	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	94					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GCTTCATCACCGGCATCCACA	0.592		NA											False	0	False	7:45222846	0
GALC	2581	broad.mit.edu	37	14	88411975	88411975	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:88411975C>T	ENST00000261304.2	-	14	1698	c.1592G>A	c.(1591-1593)cGc>cAc	p.R531H	GALC_ENST00000393568.4_Missense_Mutation_p.R508H|GALC_ENST00000393569.2_Missense_Mutation_p.R505H|GALC_ENST00000544807.2_Missense_Mutation_p.R475H	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	531			R -> C (in GLD).|R -> H (in GLD; infantile; significant reduction of activity).		carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAGAACTTGGCGTAGCGTGAA	0.408		NA											False	0	False	14:88411975	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			False	0	False	17:7577094	0
MBD4	8930	broad.mit.edu	37	3	129155916	129155916	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:129155916G>A	ENST00000429544.2	-	3	766	c.571C>T	c.(571-573)Ccg>Tcg	p.P191S	MBD4_ENST00000507208.1_Missense_Mutation_p.P191S|MBD4_ENST00000509587.1_Intron|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_Missense_Mutation_p.P191S|MBD4_ENST00000503197.1_Missense_Mutation_p.P191S	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	191					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTACTTGGCGGCATAAACACA	0.443		NA						Base excision repair (BER), DNA glycosylases					False	0	False	3:129155916	0
HLA-V	0	broad.mit.edu	37	6	29761777	29761777	+	RNA	SNP	T	T	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	T	T	-	-	T	T	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:29761777T>C	ENST00000457107.1	+	0	1003										NA											NA						tcagcaggattggtgcaaagc	0.542		NA											False	0	False	6:29761777	0
KRTAP4-3	85290	broad.mit.edu	37	17	39324213	39324213	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr17:39324213C>T	ENST00000391356.2	-	1	211	c.212G>A	c.(211-213)cGc>cAc	p.R71H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	71	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			gcagctggggcggcagcaggt	0.637		NA											False	0	True	17:39324213	0
IGFLR1	79713	broad.mit.edu	37	19	36231946	36231946	+	Missense_Mutation	SNP	A	A	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	A	A	-	-	A	A	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:36231946A>C	ENST00000592537.1	-	2	236	c.136T>G	c.(136-138)Ttc>Gtc	p.F46V	IGFLR1_ENST00000592889.1_Missense_Mutation_p.F46V|AD000671.6_ENST00000589807.1_3'UTR|IGFLR1_ENST00000588992.1_Missense_Mutation_p.F46V|IGFLR1_ENST00000246532.1_Missense_Mutation_p.F46V|IGFLR1_ENST00000344990.3_Missense_Mutation_p.F46V			Q9H665	IGFR1_HUMAN	IGF-like family receptor 1	46						integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(2)|kidney(3)|large_intestine(1)|lung(8)|prostate(1)	15						GGCGGCCCGAAGCGTTGCAGG	0.672		NA											False	0	False	19:36231946	0
TPTE	7179	broad.mit.edu	37	21	10942745	10942745	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr21:10942745C>A	ENST00000298232.7	-	12	1009	c.642G>T	c.(640-642)agG>agT	p.R214S	TPTE_ENST00000361285.4_Missense_Mutation_p.R232S|TPTE_ENST00000342420.5_Missense_Mutation_p.R194S|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	232					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAATCCATCCCTTGTGTATC	0.308		NA											False	0	True	21:10942745	0
SLC25A48	153328	broad.mit.edu	37	5	135188366	135188366	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:135188366G>A	ENST00000274513.5	+	4	449	c.277G>A	c.(277-279)Ggg>Agg	p.G93R	SLC25A48_ENST00000412661.2_Missense_Mutation_p.G93R|SLC25A48_ENST00000420621.1_Missense_Mutation_p.G93R|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000433282.2_Missense_Mutation_p.G39R			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48	93					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						GCACCGCTGCGGGGAGCCAGA	0.667		NA											False	0	True	5:135188366	0
UNC13A	23025	broad.mit.edu	37	19	17766751	17766751	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:17766751G>A	ENST00000428389.2	-	11	1487	c.1488C>T	c.(1486-1488)ccC>ccT	p.P496P	UNC13A_ENST00000552293.1_Silent_p.P408P|UNC13A_ENST00000551649.1_Silent_p.P408P|UNC13A_ENST00000550896.1_Silent_p.P408P|UNC13A_ENST00000519716.2_Silent_p.P408P|UNC13A_ENST00000252773.7_Silent_p.P408P			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	408					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCACCTTGTCGGGCGTGGCTG	0.692		NA											False	0	True	19:17766751	0
LOXL2	4017	broad.mit.edu	37	8	23155589	23155589	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr8:23155589G>A	ENST00000389131.3	-	14	2661	c.2292C>T	c.(2290-2292)agC>agT	p.S764S		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	764					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		TTAAGAGCCCGCTGAAGTGCT	0.532		NA											False	0	True	8:23155589	0
RSPRY1	89970	broad.mit.edu	37	16	57238646	57238646	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr16:57238646C>A	ENST00000537866.1	+	2	949	c.76C>A	c.(76-78)Cac>Aac	p.H26N	RSPRY1_ENST00000394420.4_Missense_Mutation_p.H26N			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	26						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TCTCGAAGAGCACATAGCCCA	0.502		NA											False	0	False	16:57238646	0
KCNA5	3741	broad.mit.edu	37	12	5153999	5153999	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:5153999G>A	ENST00000252321.3	+	1	915	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	229						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CCCCTGCCCCGCAACGAGTTC	0.607		NA											False	0	True	12:5153999	0
MYT1L	23040	broad.mit.edu	37	2	1983497	1983497	+	Missense_Mutation	SNP	C	C	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:1983497C>A	ENST00000399161.2	-	6	800	c.53G>T	c.(52-54)cGa>cTa	p.R18L	MYT1L_ENST00000428368.2_Missense_Mutation_p.R18L	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	18					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGACATACCTCGAACCCCTTT	0.582		NA											False	0	False	2:1983497	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000256078.4_Missense_Mutation_p.G12D|KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000557334.1_Missense_Mutation_p.G12D	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			False	0	False	12:25398284	0
MED12L	116931	broad.mit.edu	37	3	151075109	151075109	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:151075109C>T	ENST00000474524.1	+	18	2703	c.2665C>T	c.(2665-2667)Cgc>Tgc	p.R889C	MED12L_ENST00000273432.4_Missense_Mutation_p.R749C|P2RY12_ENST00000302632.3_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	889					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTTCTCAGGCGCTATCACAG	0.453		NA											False	0	False	3:151075109	0
TUBA3C	7278	broad.mit.edu	37	13	19751734	19751734	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:19751734G>A	ENST00000400113.3	-	4	493	c.389C>T	c.(388-390)aCg>aTg	p.T130M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	130					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGCAGTCCCGTGCACAGATC	0.582		NA											False	0	True	13:19751734	0
RPS6KB2	6199	broad.mit.edu	37	11	67200423	67200423	+	Splice_Site	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr11:67200423G>A	ENST00000312629.5	+	8	662	c.616_splice	c.e8-1	p.G206_splice	RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR|AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	206	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCTTCCTCAGGCCACATCAAA	0.612		NA											False	0	False	11:67200423	0
AP3B1	8546	broad.mit.edu	37	5	77436974	77436974	+	Missense_Mutation	SNP	G	G	C			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr5:77436974G>C	ENST00000255194.6	-	15	1818	c.1643C>G	c.(1642-1644)tCc>tGc	p.S548C	AP3B1_ENST00000519295.1_Missense_Mutation_p.S499C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	548					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CACCTGTTTGGAGTTGGTTAA	0.408		NA							Hermansky-Pudlak syndrome				False	0	False	5:77436974	0
UPF1	5976	broad.mit.edu	37	19	18971174	18971174	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:18971174G>A	ENST00000262803.5	+	16	2499	c.2227G>A	c.(2227-2229)Gat>Aat	p.D743N	UPF1_ENST00000599848.1_Missense_Mutation_p.D754N	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	754					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCCCCAACCCGATAAACCGAT	0.572		NA											False	0	True	19:18971174	0
OR5H14	403273	broad.mit.edu	37	3	97868710	97868710	+	Nonsense_Mutation	SNP	G	G	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr3:97868710G>T	ENST00000437310.1	+	1	541	c.481G>T	c.(481-483)Gga>Tga	p.G161*		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	161					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						AATCCATGAAGGATTTTTATT	0.353		NA											False	0	False	3:97868710	0
CBWD6	644019	broad.mit.edu	37	9	69247529	69247529	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr9:69247529G>A	ENST00000377457.5	-	5	588	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD6_ENST00000382399.4_Intron|CBWD6_ENST00000377449.1_Silent_p.Y125Y	NM_001085457.1	NP_001078926.1	Q4V339	CBWD6_HUMAN	COBW domain containing 6	161							ATP binding	p.Y161Y(1)		lung(4)	4						TACCATCAAGGTAAATATCAC	0.299		NA											False	0	False	9:69247529	0
RGL2	5863	broad.mit.edu	37	6	33263940	33263940	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:33263940G>A	ENST00000497454.1	-	6	1128	c.633C>T	c.(631-633)ctC>ctT	p.L211L	RGL2_ENST00000444031.2_Silent_p.L129L|RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	211	N-terminal Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CCCGGGACCGGAGATTGCGGA	0.662		NA											False	0	False	6:33263940	0
AGXT	189	broad.mit.edu	37	2	241817502	241817502	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:241817502G>A	ENST00000307503.3	+	10	1393	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	336			V -> D (in HP1).		glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.V336I(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GAGAGACATCGTCAGCTACGT	0.617		NA											False	0	False	2:241817502	0
LILRA1	11024	broad.mit.edu	37	19	55107243	55107243	+	Silent	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr19:55107243G>A	ENST00000251372.3	+	6	983	c.801G>A	c.(799-801)caG>caA	p.Q267Q	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron	NM_006863.1	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	267	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L268I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACTTCCTCCAGCTCCCTGGCC	0.607		NA											False	0	False	19:55107243	0
PPP2R5C	5527	broad.mit.edu	37	14	102360847	102360847	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr14:102360847G>A	ENST00000422945.2	+	10	991	c.895G>A	c.(895-897)Gca>Aca	p.A299T	PPP2R5C_ENST00000557095.1_Missense_Mutation_p.A268T|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.A268T|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.A323T|PPP2R5C_ENST00000334743.5_Missense_Mutation_p.A268T	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	268					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TTTTTAGCTGGCATACTGTGT	0.403		NA											False	0	False	14:102360847	0
CRIM1	51232	broad.mit.edu	37	2	36704145	36704145	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr2:36704145G>A	ENST00000280527.2	+	6	1472	c.1105G>A	c.(1105-1107)Gcc>Acc	p.A369T		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	369	VWFC 1.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				CTGCTTCACCGCCCAGTGTGG	0.483		NA											False	0	True	2:36704145	0
ANKRD35	148741	broad.mit.edu	37	1	145558485	145558485	+	Missense_Mutation	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr1:145558485C>T	ENST00000544626.1	+	5	441	c.368C>T	c.(367-369)aCg>aTg	p.T123M	ANKRD35_ENST00000355594.4_Silent_p.H142H			Q8N283	ANR35_HUMAN	ankyrin repeat domain 35	0										NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTGTGACCACGAAGCCTTCC	0.542		NA											False	0	False	1:145558485	0
FTSJD2	0	broad.mit.edu	37	6	37429865	37429865	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:37429865G>A	ENST00000373451.4	+	12	1476	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_015050.2	NP_055865.1	Q8N1G2	MTR1_HUMAN		438					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						CAGCCGTCCTGCCAACTCAGA	0.463		NA											False	0	False	6:37429865	0
PABPC3	5042	broad.mit.edu	37	13	25671262	25671262	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr13:25671262G>A	ENST00000281589.3	+	1	963	c.926G>A	c.(925-927)cGt>cAt	p.R309H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	309	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		GATGATGAACGTCTCCGGAAA	0.408		NA											False	0	False	13:25671262	0
KCTD8	386617	broad.mit.edu	37	4	44177058	44177058	+	Missense_Mutation	SNP	G	G	A			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	G	G	-	-	G	G	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr4:44177058G>A	ENST00000360029.3	-	2	1454	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	391						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						TTAGAGGGGCGATCCAATGTT	0.507		NA								HNSCC(17;0.042)			False	0	False	4:44177058	0
DAAM2	23500	broad.mit.edu	37	6	39845988	39845988	+	Silent	SNP	C	C	T			TCGA-S4-A8RO-01A-12D-A377-08	TCGA-S4-A8RO-10A-01D-A37A-08	C	C	-	-	C	C	Unknown	Untested	Somatic	Phase_I	WXS	none	NA	NA	Illumina HiSeq	5e046033-4c1a-4a72-9345-ffaf332048d3	0e737350-f1ee-4cf6-a7d4-b0a2d9c88b0a	g.chr6:39845988C>T	ENST00000538976.1	+	12	1493	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	DAAM2_ENST00000274867.4_Silent_p.N437N|DAAM2_ENST00000398904.2_Silent_p.N437N	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	437					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GGCTCATCAACGAGAATGAAG	0.547		NA											False	0	False	6:39845988	0
