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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
TGM1	7051	broad.mit.edu	37	14	24724342	24724342	+	Missense_Mutation	SNP	G	G	A	rs143322085		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:24724342G>A	ENST00000206765.6	-	12	1886	c.1763C>T	c.(1762-1764)gCg>gTg	p.A588V	TGM1_ENST00000544573.1_Missense_Mutation_p.A146V	NM_000359.2	NP_000350.1	P22735	TGM1_HUMAN	transglutaminase 1	588					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	CCCCATCACCGCGTCCTGTGC	0.577000													7	305					0	0	1	0	0
PTPRS	5802	broad.mit.edu	37	19	5210482	5210482	+	Missense_Mutation	SNP	G	G	A	rs147647579		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:5210482G>A	ENST00000372412.4	-	35	5721	c.5488C>T	c.(5488-5490)Cgg>Tgg	p.R1830W	PTPRS_ENST00000592099.1_Missense_Mutation_p.R1382W|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1791W|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1829W|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1829W|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1382W|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1791W|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1809W			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1829	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCACTCACCCGGGCATCTGTG	0.562000													11	462					0	0	1	0	0
BTN2A3P	0	broad.mit.edu	37	6	26422353	26422353	+	RNA	SNP	C	C	T	rs141013110		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:26422353C>T	ENST00000466808.2	+	0	7																		p.P3S(2)									GCTCATGGAACCAGCTGCTGC	0.622000													6	231					0	0	1	0	0
OSBP2	23762	broad.mit.edu	37	22	31285529	31285529	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:31285529G>A	ENST00000332585.6	+	7	1633	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	OSBP2_ENST00000446658.2_Missense_Mutation_p.R509Q|OSBP2_ENST00000401475.1_Missense_Mutation_p.R143Q|OSBP2_ENST00000407373.1_Missense_Mutation_p.R337Q|OSBP2_ENST00000403222.3_Missense_Mutation_p.R344Q|OSBP2_ENST00000382310.3_Intron|OSBP2_ENST00000437268.2_Missense_Mutation_p.R252Q|OSBP2_ENST00000535268.1_Missense_Mutation_p.R54Q	NM_030758.3	NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	510					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTCAAGAGGCGAGTCCGCATT	0.597000													7	630					0	0	1	0	0
MIR523	0	broad.mit.edu	37	19	54201696	54201696	+	RNA	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:54201696C>T	ENST00000385281.1	+	0	58					NR_030193.1																						GAAAAGAACGCGCTTCCCTAT	0.443000													8	437					0	0	1	0	0
CACNA1A	773	broad.mit.edu	37	19	13338336	13338336	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:13338336C>T	ENST00000360228.5	-	37	5533	c.5534G>A	c.(5533-5535)cGc>cAc	p.R1845H	CACNA1A_ENST00000573710.2_Intron	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1846					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GTAAGGCATGCGGCCCCTGGC	0.493000													4	220					0	0	1	0	0
OR6B1	135946	broad.mit.edu	37	7	143701160	143701160	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:143701160G>A	ENST00000408922.2	+	1	139	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TTGAGTATGCGGGCAGCCATG	0.502000													9	395					0	0	1	0	0
PCDHAC2	0	broad.mit.edu	37	5	140347636	140347636	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140347636C>T	ENST00000289269.5	+	1	1817	c.1285C>T	c.(1285-1287)Cga>Tga	p.R429*	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCACTGGACCGAGAGCGGGT	0.572000													7	434					0	0	1	0	0
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552000													4	139					0	0	1	0	0
UGT2B17	7367	broad.mit.edu	37	4	69403349	69403349	+	Silent	SNP	C	C	T	rs146629248	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr4:69403349C>T	ENST00000317746.2	-	6	1629	c.1587G>A	c.(1585-1587)agG>agA	p.R529R		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	529					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R529R(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ATAACTAATCCCTTTTCTTCT	0.408000													8	755					0	0	1	0	0
RP11-483E23.2	0	broad.mit.edu	37	15	28600002	28600002	+	RNA	SNP	T	T	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr15:28600002T>A	ENST00000568624.1	-	0	404																											TTCGTATGGTTTGAACCTGGG	0.493000													6	433					0	0	1	0	0
COBL	23242	broad.mit.edu	37	7	51096317	51096317	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:51096317G>A	ENST00000395542.2	-	12	2906	c.2722C>T	c.(2722-2724)Cgg>Tgg	p.R908W	COBL_ENST00000265136.7_Missense_Mutation_p.R826W			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	826										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AGGGGGTTCCGGCCCTCATGG	0.622000													4	162					0	0	1	0	0
CRLF2	64109	broad.mit.edu	37	X	1325350	1325350	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:1325350C>T	ENST00000381567.3	-	3	324	c.325G>A	c.(325-327)Gca>Aca	p.A109T	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.A109T	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	109						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CAGCGACTTGCGGTGAAAACG	0.493000			"""Mis, T"""	"""P2RY8, IGH@"""	"""B-ALL, Downs associated ALL"""								6	471					0	0	1	0	0
EPG5	57724	broad.mit.edu	37	18	43496007	43496007	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr18:43496007G>A	ENST00000282041.5	-	19	3583	c.3549C>T	c.(3547-3549)gaC>gaT	p.D1183D	EPG5_ENST00000585906.1_5'UTR	NM_020964.2	NP_066015.2	Q9HCE0	EPG5_HUMAN	ectopic P-granules autophagy protein 5 homolog (C. elegans)	1183					autophagy					NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(35)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	95						TCTGTATGCAGTCTTCCTGCA	0.393000													5	175					0	0	1	0	0
KRTAP4-7	100132476	broad.mit.edu	37	17	39240781	39240781	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:39240781C>A	ENST00000391417.4	+	1	323	c.323C>A	c.(322-324)aCc>aAc	p.T108N		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						tgccagcccacctgctgccgc	0.662000													4	63					0.00024832	0.000257268	1	1	0
SEC16A	9919	broad.mit.edu	37	9	139370989	139370989	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:139370989G>A	ENST00000313050.7	-	1	1152	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V	SEC16A_ENST00000371706.3_Missense_Mutation_p.A182V|SEC16A_ENST00000290037.6_Missense_Mutation_p.A182V|SEC16A_ENST00000431893.2_Missense_Mutation_p.A182V	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	182					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TTCTAGCGGGGCACAGCCAGA	0.607000													4	109					0	0	1	0	0
HS6ST1	9394	broad.mit.edu	37	2	129026419	129026419	+	Nonsense_Mutation	SNP	G	G	A	rs139541363	by1000genomes	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:129026419G>A	ENST00000259241.6	-	2	566	c.553C>T	c.(553-555)Cga>Tga	p.R185*		NM_004807.2	NP_004798.3	O60243	H6ST1_HUMAN	heparan sulfate 6-O-sulfotransferase 1	185	3'-phosphate binding (Potential).				heparan sulfate proteoglycan biosynthetic process, enzymatic modification	integral to plasma membrane	sulfotransferase activity	p.R185*(2)		endometrium(3)|liver(1)|lung(7)|pancreas(1)|prostate(2)|skin(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.117)		ACGGGGTCTCGTAGCAGGGTG	0.627000													4	174					0	0	1	0	0
TSPAN8	7103	broad.mit.edu	37	12	71519132	71519132	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:71519132G>A	ENST00000393330.2	-	12	1248	c.696C>T	c.(694-696)tgC>tgT	p.C232C	TSPAN8_ENST00000546561.1_Silent_p.C232C|TSPAN8_ENST00000552128.1_Silent_p.C149C|TSPAN8_ENST00000247829.3_Silent_p.C232C			P19075	TSN8_HUMAN	tetraspanin 8	232					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCCCGATCTGGCAATACAGGA	0.353000													6	533					0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178951974	178951974	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:178951974T>C	ENST00000263967.3	+	21	3186	c.3029T>C	c.(3028-3030)aTg>aCg	p.M1010T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1010	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GGCTCTGGAATGCCAGAACTA	0.383000		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	354					0	0	1	0	0
GRM4	2914	broad.mit.edu	37	6	34003844	34003844	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:34003844G>A	ENST00000374181.3	-	8	2212	c.2043C>T	c.(2041-2043)ttC>ttT	p.F681F	GRM4_ENST00000544773.1_Silent_p.F512F|GRM4_ENST00000455714.2_Silent_p.F541F|GRM4_ENST00000545715.1_Silent_p.F373F|GRM4_ENST00000538487.1_Silent_p.F681F|GRM4_ENST00000374177.3_Silent_p.F565F|GRM4_ENST00000535756.1_Silent_p.F548F	NM_001256810.1	NP_001243739.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4	681					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TGCCCTGCTCGAAGATGCGGT	0.617000													6	367					0	0	1	0	0
TNFRSF10A	8797	broad.mit.edu	37	8	23054711	23054711	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:23054711C>T	ENST00000221132.3	-	9	1085	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	341					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TCAGCTTCTGCCGGTCCCTGT	0.557000													5	419					0	0	1	0	0
AKAP9	10142	broad.mit.edu	37	7	91714155	91714155	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:91714155G>A	ENST00000359028.2	+	35	8970	c.8745G>A	c.(8743-8745)caG>caA	p.Q2915Q	AKAP9_ENST00000358100.2_Intron|AKAP9_ENST00000356239.3_Silent_p.Q2911Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2915					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			ACTGGGGTCAGGGAATTTATC	0.348000			T	BRAF	papillary thyroid								13	620					0	0	1	0	0
KRTAP1-3	81850	broad.mit.edu	37	17	39190779	39190779	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:39190779T>C	ENST00000344363.5	-	1	328	c.295A>G	c.(295-297)Agt>Ggt	p.S99G		NM_030966.1	NP_112228.1	Q8IUG1	KRA13_HUMAN	keratin associated protein 1-3	109						extracellular region|keratin filament	structural constituent of epidermis	p.S99G(2)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			ACAGCTCCACTGCTGCCCTCC	0.652000													4	129					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162513	90162513	+	RNA	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:90162513T>C	ENST00000567960.1	+	0	1249				TUBB8P7_ENST00000564451.1_RNA														p.N415N(2)									GCAACATGAATGACCTGGTGT	0.537000													8	463					0	0	1	0	0
MAVS	57506	broad.mit.edu	37	20	3844906	3844906	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:3844906C>T	ENST00000428216.2	+	6	757	c.629C>T	c.(628-630)gCg>gTg	p.A210V	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.A69V	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	210					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCGGCAGGTGCGACCTCCAGC	0.617000													6	483					0	0	1	0	0
TRIOBP	11078	broad.mit.edu	37	22	38119859	38119859	+	Silent	SNP	C	C	T	rs66505048		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:38119859C>T	ENST00000406386.3	+	7	1551	c.1296C>T	c.(1294-1296)tgC>tgT	p.C432C	RP1-37E16.12_ENST00000455236.1_RNA	NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	432					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	p.C432C(6)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAACATCCTGCGCCCAGCGGG	0.582000													6	416					0	0	1	0	0
PLCB4	5332	broad.mit.edu	37	20	9317832	9317832	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr20:9317832G>A	ENST00000378501.2	+	2	159	c.144G>A	c.(142-144)ctG>ctA	p.L48L	PLCB4_ENST00000378493.1_Silent_p.L48L|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000334005.3_Silent_p.L48L|PLCB4_ENST00000278655.4_Silent_p.L48L|PLCB4_ENST00000378473.3_Silent_p.L48L|PLCB4_ENST00000414679.2_Silent_p.L48L	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	48					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GCTTCTTTCTGACATGGAGAA	0.418000													8	432					0	0	1	0	0
CRY2	1408	broad.mit.edu	37	11	45891310	45891310	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:45891310C>T	ENST00000443527.2	+	7	1221	c.1199C>T	c.(1198-1200)gCc>gTc	p.A400V	CRY2_ENST00000417225.2_Missense_Mutation_p.A318V	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	379	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	p.A379V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						GCCCGGCATGCCGTGGCCTGC	0.642000													4	227					0	0	1	0	0
SEC63	11231	broad.mit.edu	37	6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368000													11	693					0	0	1	0	0
CYP2D7P1	0	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:42538870A>C	ENST00000424775.1	-	0	440				CYP2D7P1_ENST00000358097.4_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													6	142					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627000													3	16					0	0	1	0	0
FOLH1B	219595	broad.mit.edu	37	11	89395322	89395322	+	RNA	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343000													5	154					0	0	1	0	0
BCOR	54880	broad.mit.edu	37	X	39934135	39934135	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:39934135A>G	ENST00000342274.4	-	4	826	c.464T>C	c.(463-465)aTa>aCa	p.I155T	BCOR_ENST00000378455.4_Missense_Mutation_p.I155T|BCOR_ENST00000378444.4_Missense_Mutation_p.I155T|BCOR_ENST00000397354.3_Missense_Mutation_p.I155T	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	155					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACTTTTTTGTATTCCAGGCGG	0.517000			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic						9	493					0	0	1	0	0
MICAL2	9645	broad.mit.edu	37	11	12231128	12231128	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:12231128G>A	ENST00000256194.4	+	6	962	c.674G>A	c.(673-675)cGc>cAc	p.R225H	MICAL2_ENST00000342902.5_Missense_Mutation_p.R225H|MICAL2_ENST00000379612.3_Missense_Mutation_p.R225H|MICAL2_ENST00000527546.1_Missense_Mutation_p.R225H|MICAL2_ENST00000537344.1_Missense_Mutation_p.R225H	NM_014632.2	NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	225						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCCGATGGCCGCAGGAACACC	0.527000													5	320					0	0	1	0	0
WTAP	9589	broad.mit.edu	37	6	160174502	160174502	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:160174502A>G	ENST00000358372.4	+	7	2220	c.463A>G	c.(463-465)Aaa>Gaa	p.K155E	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	155					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CCAAACAGGGAAAAAGTTAAT	0.428000													4	220					0	0	1	0	0
TTC31	64427	broad.mit.edu	37	2	74717251	74717251	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:74717251C>T	ENST00000410003.1	+	3	238	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	TTC31_ENST00000463189.1_Intron|TTC31_ENST00000442235.2_Intron|TTC31_ENST00000233623.5_Missense_Mutation_p.H77Y			Q49AM3	TTC31_HUMAN	tetratricopeptide repeat domain 31	77							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GCTGTGGCACCATGGTGGGGA	0.632000													3	21					0	0	1	0	0
ATXN2L	11273	broad.mit.edu	37	16	28846701	28846701	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:28846701C>T	ENST00000336783.4	+	20	2833	c.2666C>T	c.(2665-2667)gCg>gTg	p.A889V	ATXN2L_ENST00000564304.1_Missense_Mutation_p.A895V|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Missense_Mutation_p.A889V|ATXN2L_ENST00000570200.1_Missense_Mutation_p.A889V|ATXN2L_ENST00000395547.2_Missense_Mutation_p.A889V|ATXN2L_ENST00000340394.8_Missense_Mutation_p.A889V|ATXN2L_ENST00000325215.6_Missense_Mutation_p.A889V	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	889						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCCCAGCATGCGGCCCCCAGT	0.632000													4	144					0	0	1	0	0
C19orf45	374877	broad.mit.edu	37	19	7570440	7570440	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:7570440G>A	ENST00000361664.2	+	6	1074	c.933G>A	c.(931-933)tcG>tcA	p.S311S		NM_198534.2	NP_940936.2	Q8NA69	CS045_HUMAN	chromosome 19 open reading frame 45	311										endometrium(1)|kidney(1)|liver(1)|lung(2)|ovary(2)|stomach(1)	8						CTCCGGAGTCGCACATCCTGA	0.622000													6	306					0	0	1	0	0
VAV1	7409	broad.mit.edu	37	19	6857088	6857088	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:6857088C>T	ENST00000304076.2	+	26	2536	c.2442C>T	c.(2440-2442)taC>taT	p.Y814Y	VAV1_ENST00000602142.1_Silent_p.Y836Y|VAV1_ENST00000599806.1_Silent_p.Y781Y|VAV1_ENST00000596764.1_Silent_p.Y804Y|VAV1_ENST00000539284.1_Silent_p.Y739Y	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	836	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTGCCAACTACGTGGAGGAAG	0.592000													5	190					0	0	1	0	0
AC024560.3	0	broad.mit.edu	37	3	197348739	197348739	+	RNA	SNP	G	G	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:197348739G>C	ENST00000418868.1	-	0	520					NR_003266.2																						TAATTTTCTAGCTGTGAAAGA	0.398000													6	478					0	0	1	0	0
FOXP2	93986	broad.mit.edu	37	7	114270000	114270000	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:114270000G>A	ENST00000393500.3	+	11	1132	c.312G>A	c.(310-312)caG>caA	p.Q104Q	FOXP2_ENST00000390668.3_Silent_p.Q203Q|FOXP2_ENST00000403559.4_Silent_p.Q196Q|FOXP2_ENST00000408937.3_Silent_p.Q204Q|FOXP2_ENST00000393494.2_Silent_p.Q179Q|FOXP2_ENST00000393489.3_Silent_p.Q87Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000360232.4_Silent_p.Q179Q|FOXP2_ENST00000378237.3_Silent_p.Q179Q|FOXP2_ENST00000393498.2_Silent_p.Q159Q|FOXP2_ENST00000393491.3_Silent_p.Q87Q|FOXP2_ENST00000350908.4_Silent_p.Q179Q			O15409	FOXP2_HUMAN	forkhead box P2	179	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q204Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcaacaacagcagcagcagc	0.498000													6	232					0	0	1	0	0
OSBPL3	26031	broad.mit.edu	37	7	24874215	24874215	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:24874215G>A	ENST00000313367.2	-	15	2087	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	OSBPL3_ENST00000431825.2_Missense_Mutation_p.P479S|OSBPL3_ENST00000409069.1_Missense_Mutation_p.P479S|OSBPL3_ENST00000396429.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000353930.1_Missense_Mutation_p.P510S|OSBPL3_ENST00000352860.1_Missense_Mutation_p.P515S|OSBPL3_ENST00000396431.1_Missense_Mutation_p.P515S	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	546					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AGCTCCACCGGCATGGCCACC	0.632000													5	321					0	0	1	0	0
KRTAP4-6	81871	broad.mit.edu	37	17	39296282	39296282	+	Missense_Mutation	SNP	G	G	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:39296282G>T	ENST00000345847.4	-	1	457	c.458C>A	c.(457-459)tCt>tAt	p.S153Y		NM_030976.1	NP_112238.1	Q9BYQ5	KRA46_HUMAN	keratin associated protein 4-6	149	29 X 5 AA repeats of C-C-[IRQVEL]-[SPTR]- [STVQRCP].					keratin filament				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1)	9						ttcacagcaagaggggcggca	0.662000													5	177					0.00621372	0.00638015	1	1	0
CYB561D1	284613	broad.mit.edu	37	1	110038541	110038541	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:110038541G>A	ENST00000420578.2	+	3	390	c.350G>A	c.(349-351)cGc>cAc	p.R117H	CYB561D1_ENST00000533024.1_3'UTR|CYB561D1_ENST00000528785.1_Missense_Mutation_p.R117H|CYB561D1_ENST00000527072.1_3'UTR|CYB561D1_ENST00000430195.2_3'UTR|CYB561D1_ENST00000393709.3_Missense_Mutation_p.R60H|CYB561D1_ENST00000369868.3_Missense_Mutation_p.R139H|CYB561D1_ENST00000310611.4_3'UTR|CYB561D1_ENST00000496961.1_3'UTR			Q8N8Q1	C56D1_HUMAN	cytochrome b561 family, member D1	117	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			breast(1)|large_intestine(3)|prostate(1)	5		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0422)|Epithelial(280;0.0655)|all cancers(265;0.0685)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCAGGACCCGCAGTGAGCTG	0.637000													6	319					0	0	1	0	0
SLC39A5	283375	broad.mit.edu	37	12	56629464	56629464	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:56629464C>T	ENST00000266980.4	+	6	1218	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	SLC39A5_ENST00000454355.2_Missense_Mutation_p.R309W	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	309					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity	p.R308W(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTTTGCGGCACCGAGG	0.632000													9	934					0	0	1	0	0
ADAMTS19	171019	broad.mit.edu	37	5	129030474	129030474	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:129030474C>A	ENST00000274487.4	+	19	3007	c.2862C>A	c.(2860-2862)gaC>gaA	p.D954E	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	954	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCATTGTGGACAATGAGAAAT	0.368000													7	444					2.74318e-10	2.94828e-10	1	1	0
KCNMA1	3778	broad.mit.edu	37	10	78868281	78868281	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:78868281C>T	ENST00000286627.5	-	9	2133	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	KCNMA1_ENST00000406533.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R394H|KCNMA1_ENST00000404857.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R394H|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R394H|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R394H|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R394H	NM_002247.3	NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	394					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GTATTTCTTGCGGTTTCCTAT	0.468000													6	461					0	0	1	0	0
TRRAP	8295	broad.mit.edu	37	7	98573795	98573795	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:98573795C>T	ENST00000359863.4	+	53	8051	c.7842C>T	c.(7840-7842)ttC>ttT	p.F2614F	TRRAP_ENST00000446306.3_Silent_p.F2596F|TRRAP_ENST00000355540.3_Silent_p.F2596F	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2614					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGCGCTTTCGTTCAGCTGT	0.567000													13	374					0	0	1	0	0
GPHB5	122876	broad.mit.edu	37	14	63784429	63784429	+	RNA	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:63784429G>A	ENST00000539258.1	-	0	191							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5							extracellular region	hormone activity			breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		CTGGCTTCTTGGCCAGGAAAG	0.607000													5	212					0	0	1	0	0
TERT	0	broad.mit.edu	37	5	1282622	1282622	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:1282622G>A	ENST00000310581.5	-	3	1748	c.1691C>T	c.(1690-1692)aCg>aTg	p.T564M	TERT_ENST00000296820.5_Missense_Mutation_p.T564M|TERT_ENST00000334602.6_Missense_Mutation_p.T564M|TERT_ENST00000508104.2_Missense_Mutation_p.T564M	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	564					anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CGTGGTCTCCGTGACATAAAA	0.532000									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				5	255					0	0	1	0	0
DMGDH	29958	broad.mit.edu	37	5	78326807	78326807	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:78326807C>T	ENST00000255189.3	-	10	1560	c.1532G>A	c.(1531-1533)cGc>cAc	p.R511H	DMGDH_ENST00000540686.1_Missense_Mutation_p.R131H|DMGDH_ENST00000380311.4_Missense_Mutation_p.R310H	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	511					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCAGTTTGTGCGGCGAAAACT	0.398000													4	225					0	0	1	0	0
TRAV3	0	broad.mit.edu	37	14	22192111	22192111	+	RNA	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:22192111G>A	ENST00000390425.2	+	0	152																											CCCCAATCCCGCCCGCCGTGA	0.577000													6	454					0	0	1	0	0
PCDHB11	0	broad.mit.edu	37	5	140580809	140580809	+	Missense_Mutation	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140580809T>C	ENST00000354757.3	+	1	1462	c.1462T>C	c.(1462-1464)Tac>Cac	p.Y488H	PCDHB11_ENST00000536699.1_Missense_Mutation_p.Y123H	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		488	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAGGTCAACTACTCGCTACT	0.632000													18	770					0	0	1	0	0
SLC38A8	146167	broad.mit.edu	37	16	84050178	84050178	+	Missense_Mutation	SNP	C	C	T	rs149742482	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:84050178C>T	ENST00000299709.3	-	8	1107	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	370					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CTGACGATCTCGCTGAGGTCA	0.607000													10	200					0	0	1	0	0
MBNL1	4154	broad.mit.edu	37	3	152150611	152150611	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:152150611C>T	ENST00000282486.6	+	4	2293	c.451C>T	c.(451-453)Ccg>Tcg	p.P151S	MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000498502.1_Missense_Mutation_p.P151S|MBNL1_ENST00000357472.3_Missense_Mutation_p.P151S|MBNL1_ENST00000324196.5_Missense_Mutation_p.P151S|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000485509.1_Missense_Mutation_p.P151S|MBNL1_ENST00000355460.2_Missense_Mutation_p.P151S|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000492948.1_Missense_Mutation_p.P151S|MBNL1_ENST00000463374.1_Missense_Mutation_p.P151S|MBNL1_ENST00000324210.5_Missense_Mutation_p.P151S|MBNL1_ENST00000493459.1_Missense_Mutation_p.P94S			Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	151					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGAGATCTTGCCGACTGCACC	0.532000													7	734					0	0	1	0	0
MAP2K4	6416	broad.mit.edu	37	17	12043158	12043158	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:12043158T>G	ENST00000415385.3	+	11	1129	c.1076T>G	c.(1075-1077)cTt>cGt	p.L359R	MAP2K4_ENST00000353533.5_Missense_Mutation_p.L348R			P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	348	Protein kinase.				cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.0?(10)|p.?(2)|p.L348R(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		TATTTTAGCCTTACGAAGGAT	0.333000			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""								18	579					0	0	1	0	0
ARHGAP17	55114	broad.mit.edu	37	16	24971282	24971282	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:24971282T>G	ENST00000289968.6	-	8	661	c.592A>C	c.(592-594)Atg>Ctg	p.M198L	ARHGAP17_ENST00000575975.1_5'UTR|ARHGAP17_ENST00000441763.2_Missense_Mutation_p.M198L|ARHGAP17_ENST00000303665.5_Missense_Mutation_p.M198L	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	198	BAR.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		AAGTTGTACATGTCTGCTGCA	0.383000													8	522					0	0	1	0	0
NOTCH3	4854	broad.mit.edu	37	19	15297738	15297738	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:15297738G>A	ENST00000263388.2	-	12	1977	c.1902C>T	c.(1900-1902)tgC>tgT	p.C634C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	634	EGF-like 16; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGCCATCACGGCAGACTCCAA	0.577000													4	226					0	0	1	0	0
D86994.2	0	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627000													3	16					0.150653	0.151975	1	1	0
GABRA6	2559	broad.mit.edu	37	5	161115979	161115979	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:161115979C>T	ENST00000274545.5	+	4	683	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	GABRA6_ENST00000523217.1_Intron|RP11-348M17.2_ENST00000521984.1_RNA|GABRA6_ENST00000522269.1_3'UTR			Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	84					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTTTTTTTCCGCCAGACCTG	0.408000										TCGA Ovarian(5;0.080)			7	476					0	0	1	0	0
ARHGAP5	394	broad.mit.edu	37	14	32559928	32559928	+	Missense_Mutation	SNP	T	T	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:32559928T>A	ENST00000345122.3	+	2	368	c.53T>A	c.(52-54)gTt>gAt	p.V18D	ARHGAP5_ENST00000556611.1_Missense_Mutation_p.V18D|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.V18D|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.V18D	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	18					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		ATCAGTATAGTTGGACTCTCT	0.393000													9	452					0	0	1	0	0
HERC2P3	0	broad.mit.edu	37	15	20644850	20644850	+	RNA	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr15:20644850G>A	ENST00000428453.1	-	0	3097																		p.A803V(4)		central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CATGTCCCTCGCCCTTTCGGT	0.463000													7	276					0	0	1	0	0
NHP2L1	4809	broad.mit.edu	37	22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr22:42071074G>A	ENST00000401959.1	-	4	566	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000355257.3_Missense_Mutation_p.R84C|NHP2L1_ENST00000215956.5_Missense_Mutation_p.R84C|NHP2L1_ENST00000402458.1_Missense_Mutation_p.R88C	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577000													5	306					0	0	1	0	0
MTR	4548	broad.mit.edu	37	1	237054527	237054527	+	Missense_Mutation	SNP	C	C	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:237054527C>G	ENST00000366577.5	+	29	3496	c.3102C>G	c.(3100-3102)ttC>ttG	p.F1034L	MTR_ENST00000535889.1_Missense_Mutation_p.F983L	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1034	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TGGTTGGGTTCTGGCCAGCAC	0.542000													6	650					0	0	1	0	0
KBTBD4	55709	broad.mit.edu	37	11	47599133	47599133	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:47599133C>T	ENST00000533290.1	-	1	1208	c.494G>A	c.(493-495)cGc>cAc	p.R165H	KBTBD4_ENST00000395288.2_Missense_Mutation_p.R140H|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Missense_Mutation_p.R140H|KBTBD4_ENST00000525720.1_Missense_Mutation_p.R189H|KBTBD4_ENST00000430070.2_Missense_Mutation_p.R156H			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	140	BACK.							p.R140H(2)		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						TTGCACTGTGCGGGCCAAAAA	0.517000													7	600					0	0	1	0	0
ST6GALNAC5	81849	broad.mit.edu	37	1	77334298	77334298	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:77334298G>A	ENST00000477717.1	+	2	367	c.132G>A	c.(130-132)caG>caA	p.Q44Q	ST6GALNAC5_ENST00000496845.1_3'UTR	NM_030965.1	NP_112227.1	Q9BVH7	SIA7E_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5	44	Poly-Gln.				protein glycosylation	integral to Golgi membrane	sialyltransferase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	18						agcagcagcagcaacagcagc	0.711000													4	185					0	0	1	0	0
FAM5B	0	broad.mit.edu	37	1	177247848	177247848	+	Missense_Mutation	SNP	C	C	T	rs138472115		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:177247848C>T	ENST00000361539.4	+	7	1474	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	FAM5B_ENST00000478325.1_3'UTR	NM_021165.2	NP_066988.1	Q9C0B6	FAM5B_HUMAN		388						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						AAAGACCCATCGGATCCTACG	0.612000													6	475					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72664015	72664015	+	RNA	SNP	C	C	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:72664015C>G	ENST00000425256.1	-	0	885					NR_002164.1																						ATACCACCCCCGGGGCATGCC	0.507000													5	78					0	0	1	0	0
TTC17	55761	broad.mit.edu	37	11	43419628	43419628	+	Silent	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:43419628G>A	ENST00000039989.4	+	8	1037	c.1023G>A	c.(1021-1023)caG>caA	p.Q341Q	TTC17_ENST00000299240.6_Silent_p.Q341Q|TTC17_ENST00000526774.1_3'UTR	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	341							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TCCTATGTCAGCAAAAACTGG	0.438000													5	280					0	0	1	0	0
KRAS	3845	broad.mit.edu	37	12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	rs121913529		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:25398284C>T	ENST00000311936.3	-	2	226	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_ENST00000556131.1_Missense_Mutation_p.G12D|KRAS_ENST00000256078.4_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	0.348000	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)			6	319					0	0	1	0	0
CNTN4	152330	broad.mit.edu	37	3	2777910	2777910	+	Missense_Mutation	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:2777910C>A	ENST00000397461.1	+	4	451	c.67C>A	c.(67-69)Ctg>Atg	p.L23M	CNTN4_ENST00000418658.1_Missense_Mutation_p.L23M|CNTN4_ENST00000427331.1_Missense_Mutation_p.L23M	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	23					axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGATTCCACACTGCATGGCCC	0.363000													13	916					1.05317e-09	1.12143e-09	1	1	0
NANS	54187	broad.mit.edu	37	9	100843173	100843173	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:100843173G>A	ENST00000210444.5	+	5	749	c.679G>A	c.(679-681)Gca>Aca	p.A227T	TRIM14_ENST00000478530.1_5'UTR|NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	227					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				ATCTGTGGCCGCAGTGGCTCT	0.498000													5	463					0	0	1	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84607903	84607903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:84607903G>A	ENST00000344803.2	+	4	2565	c.2518G>A	c.(2518-2520)Gaa>Aaa	p.E840K		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		GAAATTTGAGGAAATCAATGA	0.443000													5	279					0	0	1	0	0
ADAM29	11086	broad.mit.edu	37	4	175899044	175899044	+	Missense_Mutation	SNP	T	T	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr4:175899044T>G	ENST00000359240.3	+	5	3038	c.2368T>G	c.(2368-2370)Ttg>Gtg	p.L790V	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000404450.4_Missense_Mutation_p.L790V|ADAM29_ENST00000445694.1_Missense_Mutation_p.L790V|ADAM29_ENST00000514159.1_Missense_Mutation_p.L790V	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	790	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCATCCTCAGTTGACGCCTTC	0.572000													9	593					0	0	1	0	0
TBC1D3P2	0	broad.mit.edu	37	17	60342186	60342186	+	RNA	SNP	T	T	C	rs79096325		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:60342186T>C	ENST00000581291.1	-	0	1967																				breast(2)|kidney(1)|lung(2)	5						GCTGGGGGTGTTGGGAGGGGC	0.498000													5	95					0	0	1	0	0
FOLH1	2346	broad.mit.edu	37	11	49186293	49186293	+	Silent	SNP	C	C	T	rs141224157	by1000genomes	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:49186293C>T	ENST00000340334.7	-	14	1727	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	FOLH1_ENST00000533034.1_Silent_p.P453P|FOLH1_ENST00000256999.2_Silent_p.P468P|FOLH1_ENST00000525629.1_5'UTR|FOLH1_ENST00000343844.4_Silent_p.P160P|FOLH1_ENST00000356696.3_Silent_p.P468P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	468	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGTACATCAGCGGTGTACAAT	0.284000													6	413					0	0	1	0	0
AL928742.12	0	broad.mit.edu	37	14	106066370	106066370	+	RNA	SNP	T	T	C	rs1134593		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:106066370T>C	ENST00000412518.1	-	0	6				IGHE_ENST00000577108.1_RNA|IGHE_ENST00000576077.1_RNA																							CACAGCTGGATGGAGCCCTGG	0.602000													11	380					0	0	1	0	0
FAM208B	54906	broad.mit.edu	37	10	5789903	5789903	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:5789903G>A	ENST00000328090.5	+	15	5144	c.4519G>A	c.(4519-4521)Gag>Aag	p.E1507K		NM_017782.4	NP_060252.4	Q5VWN6	CJ018_HUMAN	family with sequence similarity 208, member B	1507																	TGTCTCAAGTGAGCATGATGA	0.473000													5	211					0	0	1	0	0
C1QTNF7	114905	broad.mit.edu	37	4	15444203	15444203	+	Missense_Mutation	SNP	G	G	A	rs150953206	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr4:15444203G>A	ENST00000295297.4	+	3	930	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	C1QTNF7_ENST00000444304.2_Missense_Mutation_p.R217Q|C1QTNF7_ENST00000429690.1_Missense_Mutation_p.R217Q	NM_001135170.1	NP_001128642.1	Q9BXJ2	C1QT7_HUMAN	C1q and tumor necrosis factor related protein 7	217	C1q.					collagen				endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)	16						GGGCAATACCGGATAAAGACC	0.458000													6	615					0	0	1	0	0
KMT2C	58508	broad.mit.edu	37	7	151877209	151877209	+	Silent	SNP	C	C	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:151877209C>A	ENST00000355193.2	-	37	7370	c.7152G>T	c.(7150-7152)cgG>cgT	p.R2384R	KMT2C_ENST00000262189.6_Silent_p.R2384R					lysine (K)-specific methyltransferase 2C																		GTAACTTCTGCCGCTAAATGG	0.433000													9	612					2.17888e-05	2.27792e-05	1	1	0
CASR	846	broad.mit.edu	37	3	122003470	122003470	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:122003470G>A	ENST00000498619.1	+	7	3137	c.2699G>A	c.(2698-2700)cGc>cAc	p.R900H	CASR_ENST00000296154.5_Missense_Mutation_p.R890H|CASR_ENST00000490131.1_Missense_Mutation_p.R890H	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	890	Interaction with RNF19A.				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCCACGCTGCGCCGCAGCAAC	0.627000													4	132					0	0	1	0	0
THRAP3	9967	broad.mit.edu	37	1	36766557	36766557	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:36766557G>A	ENST00000354618.5	+	10	2598	c.2374G>A	c.(2374-2376)Gca>Aca	p.A792T	THRAP3_ENST00000469141.2_Missense_Mutation_p.A792T	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	792					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTCCTACAAAGCAGAAGAGTA	0.502000			T	USP6	aneurysmal bone cysts								5	255					0	0	1	0	0
HECTD2	143279	broad.mit.edu	37	10	93261004	93261004	+	Missense_Mutation	SNP	A	A	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:93261004A>G	ENST00000446394.1	+	21	2235	c.2135A>G	c.(2134-2136)cAt>cGt	p.H712R	HECTD2_ENST00000371667.1_Missense_Mutation_p.H358R|HECTD2_ENST00000298068.5_Missense_Mutation_p.H708R|HECTD2_ENST00000536715.1_Missense_Mutation_p.H297R			Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	708	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						AAGTTGCTACATTTTACTACA	0.353000													13	397					0	0	1	0	0
EPHA2	1969	broad.mit.edu	37	1	16458656	16458656	+	Missense_Mutation	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:16458656C>T	ENST00000358432.5	-	13	2382	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	743	Mediates interaction with ARHGEF16 and ELMO2.|Protein kinase.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	GAGGATGTTGCGGGCAGCCAG	0.612000													7	545					0	0	1	0	0
PLEC	5339	broad.mit.edu	37	8	145024775	145024775	+	Missense_Mutation	SNP	G	G	A			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:145024775G>A	ENST00000322810.4	-	1	269	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000354958.2_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	34	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGCAAGCTGCGGGGCCGCCGG	0.692000													3	25					0	0	1	0	0
RPL23AP7	0	broad.mit.edu	37	2	114369641	114369641	+	RNA	SNP	T	T	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:114369641T>C	ENST00000416673.2	-	0	515					NR_000029.3																						GGTGCTCTTCTGAGGCTATCT	0.542000													9	344					0	0	1	0	0
PCDHA12	0	broad.mit.edu	37	5	140256671	140256671	+	Silent	SNP	C	C	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:140256671C>T	ENST00000398631.2	+	1	1614	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018903.2|NM_031864.1	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCCGGCG	0.692000													8	685					0	0	1	0	0
SLC6A9	6536	broad.mit.edu	37	1	44489938	44489938	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:44489938delT	ENST00000372310.3	-	2	177	c.12delA	c.(10-12)aafs	p.K4fs	SLC6A9_ENST00000537678.1_5'UTR|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000475075.2_5'UTR|SLC6A9_ENST00000372306.3_Frame_Shift_Del_p.K4fs	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	335						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	CTTTGGCACCTTTTCCTACCA	0.627													7	1274	---	---	---	---					
RP4-717I23.3	0	broad.mit.edu	37	1	93744310	93744310	+	RNA	DEL	T	T	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:93744310delT	ENST00000451302.2	-	0	1008				RP4-717I23.3_ENST00000442860.1_RNA|RP4-717I23.3_ENST00000424517.3_RNA|RP4-717I23.3_ENST00000429859.1_RNA|RP4-717I23.3_ENST00000413606.1_RNA|RP4-717I23.3_ENST00000414430.1_RNA|RP4-717I23.3_ENST00000455474.1_RNA|RP4-717I23.3_ENST00000447577.1_RNA|RP4-717I23.3_ENST00000427669.1_RNA|RP4-717I23.3_ENST00000446528.2_RNA|RP4-717I23.3_ENST00000415150.1_RNA|RP4-717I23.3_ENST00000457025.1_RNA																							GGAATGCaaattttttttttt	0.279													9	21	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109312	145109313	+	RNA	INS	-	-	A	rs148903206		TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr1:145109312_145109313insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										aaaccaaaaacaaaAAAAAAAG	0.416													8	17	---	---	---	---					
TMEM127	55654	broad.mit.edu	37	2	96919781	96919783	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:96919781_96919783delTGC	ENST00000258439.2	-	4	736_738	c.480_482delGCA	c.(478-483)cat>ca	p.QH160del	TMEM127_ENST00000435268.1_In_Frame_Del_p.QH76del|TMEM127_ENST00000432959.1_In_Frame_Del_p.QH160del	NM_001193304.2|NM_017849.3	NP_001180233.1|NP_060319.1	O75204	TM127_HUMAN	transmembrane protein 127	160					negative regulation of cell proliferation|negative regulation of TOR signaling cascade	cytoplasm|integral to membrane|plasma membrane				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)	5						GTACTTCTTATGCTGCTGCTGCT	0.557													10	306	---	---	---	---					
LIPT1	51601	broad.mit.edu	37	2	99778781	99778781	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:99778781delA	ENST00000393477.3	+	4	713	c.361delA	c.(361-363)aafs	p.K123fs	MRPL30_ENST00000410042.1_Intron|LIPT1_ENST00000393471.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393473.2_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000393474.3_Frame_Shift_Del_p.K123fs|LIPT1_ENST00000340066.1_Frame_Shift_Del_p.K123fs	NM_145197.2	NP_660198.1	Q9Y234	LIPT_HUMAN	lipoyltransferase 1	123					lipid metabolic process|protein lipoylation	mitochondrion	acyltransferase activity			large_intestine(6)|lung(1)	7					Lipoic Acid(DB00166)	CTTTACAACCAAAAAAAAGTA	0.388													9	397	---	---	---	---					
ERCC3	2071	broad.mit.edu	37	2	128046235	128046235	+	Splice_Site	DEL	C	C	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:128046235delC	ENST00000493187.2	-	7	1299		c.e7+1		ERCC3_ENST00000285398.2_Splice_Site			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3						cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTACCACTTACCGCAGGGAAG	0.532			"""Mis, S"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				38	2186	---	---	---	---					
ACVR2A	92	broad.mit.edu	37	2	148657041	148657041	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:148657041delA	ENST00000241416.7	+	3	914	c.278delA	c.(277-279)gafs	p.E93fs	ACVR2A_ENST00000535787.1_5'UTR|ACVR2A_ENST00000404590.1_Frame_Shift_Del_p.E93fs|AC009480.3_ENST00000402410.2_RNA	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	93					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		GATTGTGTAGAAAAAAAAGAC	0.303													10	530	---	---	---	---					
GTF3C3	9330	broad.mit.edu	37	2	197649613	197649614	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr2:197649613_197649614insT	ENST00000263956.3	-	8	1170_1171	c.1081_1082insA	c.(1081-1083)ttcfs	p.F361fs	GTF3C3_ENST00000409364.3_Frame_Shift_Ins_p.F361fs	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	361						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TTCTTCTGAAGTTTTTTTTTCC	0.337													10	337	---	---	---	---					
MED12L	116931	broad.mit.edu	37	3	150877786	150877786	+	Frame_Shift_Del	DEL	C	C	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr3:150877786delC	ENST00000474524.1	+	7	1043	c.1005delC	c.(1003-1005)ggfs	p.G335fs	MED12L_ENST00000309237.4_Frame_Shift_Del_p.G335fs|MED12L_ENST00000422248.2_Frame_Shift_Del_p.G335fs|MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	335					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)			CCAGCCCTGGCCCCCCCGGCC	0.582													10	727	---	---	---	---					
NAP1L5	266812	broad.mit.edu	37	4	89618431	89618433	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr4:89618431_89618433delCCT	ENST00000323061.5	-	1	953_955	c.473_475delAGG	c.(472-477)gct>g	p.EA158del	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron|HERC3_ENST00000543130.1_Intron	NM_153757.2	NP_715638.1	Q96NT1	NP1L5_HUMAN	nucleosome assembly protein 1-like 5	158	Glu-rich.				nucleosome assembly	nucleus	protein binding			endometrium(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(123;0.000181)		TCTGCCGCAGcctcctcctcctc	0.626													8	510	---	---	---	---					
ZFR	51663	broad.mit.edu	37	5	32419951	32419953	+	In_Frame_Del	DEL	GGT	GGT	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:32419951_32419953delGGT	ENST00000265069.8	-	3	495_497	c.393_395delACC	c.(391-396)ccc>cc	p.PP131del		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	131	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		AGTAGCTGGGGGTGGTGGTGGTG	0.483													9	789	---	---	---	---					
ZNF608	57507	broad.mit.edu	37	5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)del	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													7	842	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154181822	154181822	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr5:154181822delG	ENST00000336314.4	+	11	1765	c.1741delG	c.(1741-1743)ggfs	p.G582fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	659							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCGGCACCCAGGGGGGGACCG	0.547													7	372	---	---	---	---					
GABRR1	2569	broad.mit.edu	37	6	89891719	89891721	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr6:89891719_89891721delAAG	ENST00000435811.1	-	7	1255_1257	c.801_803delCTT	c.(799-804)ttg>tt	p.FL267del	GABRR1_ENST00000369451.3_In_Frame_Del_p.FL197del|GABRR1_ENST00000454853.2_In_Frame_Del_p.FL284del	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	284					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	AGTTTGGAGCAAGAAGAAGAAGA	0.522													8	409	---	---	---	---					
EPDR1	54749	broad.mit.edu	37	7	37989894	37989894	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:37989894delT	ENST00000199448.4	+	3	950	c.571delT	c.(571-573)ttfs	p.F192fs	EPDR1_ENST00000476620.1_Frame_Shift_Del_p.F90fs|EPDR1_ENST00000425345.1_Frame_Shift_Del_p.F131fs|EPDR1_ENST00000559325.1_Frame_Shift_Del_p.F312fs	NM_017549.4	NP_060019.2	Q9UM22	EPDR1_HUMAN	ependymin related 1	192					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						GTCTACGCGGTTTTTTGACAT	0.468													8	415	---	---	---	---					
POU6F2	11281	broad.mit.edu	37	7	39379288	39379290	+	In_Frame_Del	DEL	CAG	CAG	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr7:39379288_39379290delCAG	ENST00000518318.2	+	5	601_603	c.559_561delCAG	c.(559-561)del	p.Q196del	POU6F2_ENST00000559001.1_In_Frame_Del_p.Q188del|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000403058.1_In_Frame_Del_p.Q196del			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	196	Gln-rich.			Q -> QQ (in Ref. 1; AAB49727/AAB49728).	central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						gctccagctccagcagcagcagc	0.616													9	106	---	---	---	---					
SFTPC	6440	broad.mit.edu	37	8	22020159	22020161	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr8:22020159_22020161delGTG	ENST00000521315.1	+	2	147_149	c.115_117delGTG	c.(115-117)del	p.V44del	SFTPC_ENST00000437090.2_In_Frame_Del_p.V44del|SFTPC_ENST00000524255.1_Intron|SFTPC_ENST00000318561.3_In_Frame_Del_p.V44del|SFTPC_ENST00000522109.1_In_Frame_Del_p.V44del|SFTPC_ENST00000520605.1_Intron			P11686	PSPC_HUMAN	surfactant protein C	44					respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		CCTTCTTATCGTGGTGGTGGTGG	0.601													8	489	---	---	---	---					
TMC1	117531	broad.mit.edu	37	9	75355041	75355041	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:75355041delA	ENST00000297784.5	+	9	909	c.369delA	c.(367-369)gcfs	p.A123fs	TMC1_ENST00000396237.3_Frame_Shift_Del_p.A123fs|TMC1_ENST00000340019.3_Frame_Shift_Del_p.A123fs	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	123	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCAGGGAGGCAAAAAAATTTG	0.373													7	272	---	---	---	---					
ROR2	4920	broad.mit.edu	37	9	94486026	94486028	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:94486026_94486028delTCC	ENST00000375708.3	-	9	2946_2948	c.2748_2750delGGA	c.(2746-2751)gaa>ga	p.EE916del	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	916					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GACAGAGCCTTCCTCCTCCTCCT	0.645													9	426	---	---	---	---					
CEL	1056	broad.mit.edu	37	9	135946855	135946856	+	Frame_Shift_Ins	INS	-	-	C			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr9:135946855_135946856insC	ENST00000372080.4	+	11	1991_1992	c.1975_1976insC	c.(1975-1977)cccfs	p.P659fs	CEL_ENST00000351304.7_Frame_Shift_Ins_p.P590fs	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	656	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGACTCCGGGGCCCCCCCCGTG	0.856													3	4	---	---	---	---					
RP11-526P5.2	0	broad.mit.edu	37	10	2561169	2561170	+	RNA	INS	-	-	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:2561169_2561170insG	ENST00000438753.1	+	0	207																											aagaagaagaagGGGGGGGGAG	0.386													2	4	---	---	---	---					
DNAJC12	56521	broad.mit.edu	37	10	69565430	69565433	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:69565430_69565433delTCTT	ENST00000225171.2	-	4	562_565	c.410_413delAAGA	c.(409-414)agfs	p.KE137fs	DNAJC12_ENST00000483798.2_Frame_Shift_Del_p.KE167fs	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	137					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						AGCCAGCTCCTCTTTCTTTCTTTC	0.446													8	1086	---	---	---	---					
STAMBPL1	57559	broad.mit.edu	37	10	90682146	90682146	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr10:90682146delA	ENST00000371927.3	+	10	2165	c.1207delA	c.(1207-1209)aafs	p.K405fs	STAMBPL1_ENST00000371924.1_Frame_Shift_Del_p.K405fs|STAMBPL1_ENST00000371926.3_Frame_Shift_Del_p.K405fs|STAMBPL1_ENST00000371922.1_Frame_Shift_Del_p.K239fs			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	405							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		TTCTGCTTGTAAAAAAAAGGG	0.423													11	330	---	---	---	---					
FADS2	9415	broad.mit.edu	37	11	61607885	61607887	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:61607885_61607887delTCC	ENST00000278840.4	+	3	1028_1030	c.398_400delTCC	c.(397-402)ttc>t	p.FL133del	FADS2_ENST00000522056.1_In_Frame_Del_p.FL102del|FADS2_ENST00000521849.1_In_Frame_Del_p.FL133del|FADS2_ENST00000257261.6_In_Frame_Del_p.FL111del	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	133					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CACGTGTTCTTCCTCCTCCTCCT	0.537													7	673	---	---	---	---					
CADM1	23705	broad.mit.edu	37	11	115375030	115375035	+	In_Frame_Del	DEL	AGCCGG	AGCCGG	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr11:115375030_115375035delAGCCGG	ENST00000542447.2	-	1	206_211	c.78_83delCCGGCT	c.(76-84)ctt>ct	p.LRL26del	CADM1_ENST00000537058.1_In_Frame_Del_p.LRL26del|CADM1_ENST00000536727.1_In_Frame_Del_p.LRL26del|CADM1_ENST00000331581.6_In_Frame_Del_p.LRL26del|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000452722.2_In_Frame_Del_p.LRL26del	NM_001098517.1	NP_001091987.1	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1	26					adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CAACAGCAGAAGCCGGAGCCGGAGCC	0.694													8	8	---	---	---	---					
SLCO1B3	28234	broad.mit.edu	37	12	21069042	21069043	+	Frame_Shift_Ins	INS	-	-	G			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:21069042_21069043insG	ENST00000381545.3	+	16	2189_2190	c.1970_1971insG	c.(1969-1971)agcfs	p.S657fs	LST3_ENST00000540229.1_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Ins_p.S657fs|SLCO1B7_ENST00000554957.1_Intron|SLCO1B3_ENST00000553473.1_Intron|LST3_ENST00000381541.3_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	657					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AAAGATACCAAGGCATCGGACA	0.317													7	404	---	---	---	---					
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)del	p.S45del	ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	463	---	---	---	---					
LINC00459	0	broad.mit.edu	37	13	62902580	62902580	+	RNA	DEL	C	C	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr13:62902580delC	ENST00000431656.1	+	0	298																											ATCAAAACAGCAAAAAAAAAA	0.313													2	4	---	---	---	---					
DICER1	23405	broad.mit.edu	37	14	95562455	95562455	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr14:95562455delT	ENST00000526495.1	-	25	5093	c.4802delA	c.(4801-4803)agfs	p.K1601fs	DICER1_ENST00000343455.3_Frame_Shift_Del_p.K1601fs|DICER1_ENST00000393063.1_Frame_Shift_Del_p.K1601fs|DICER1_ENST00000541352.1_Frame_Shift_Del_p.K1601fs|DICER1_ENST00000527414.1_Frame_Shift_Del_p.K1601fs|DICER1_ENST00000556045.1_Frame_Shift_Del_p.K499fs			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1601					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GCACAGGGCCTTTTCCCGATC	0.522			"""Mis F, N"""		"""sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"""	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				8	1401	---	---	---	---					
HERC2P2	0	broad.mit.edu	37	15	23299147	23299147	+	RNA	DEL	A	A	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr15:23299147delA	ENST00000560464.1	-	0	4510																											ACATTCAAAGAAAAAAAAAAA	0.313													8	19	---	---	---	---					
SECISBP2L	9728	broad.mit.edu	37	15	49309051	49309051	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr15:49309051delT	ENST00000559471.1	-	10	1676	c.1413delA	c.(1411-1413)aafs	p.K471fs	SECISBP2L_ENST00000261847.3_Frame_Shift_Del_p.K426fs	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	471										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						GTACCTGTAATTTTTTTTGCT	0.353													7	423	---	---	---	---					
IQGAP1	8826	broad.mit.edu	37	15	91019925	91019925	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr15:91019925delA	ENST00000268182.5	+	24	2939	c.2815delA	c.(2815-2817)aafs	p.K940fs	IQGAP1_ENST00000560738.1_Frame_Shift_Del_p.K368fs	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	940					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			AAAACTTACCAAAAAAAATAA	0.363													7	668	---	---	---	---					
PRSS41	360226	broad.mit.edu	37	16	2848500	2848511	+	RNA	DEL	GGCGCTGCTGCT	GGCGCTGCTGCT	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:2848500_2848511delGGCGCTGCTGCT	ENST00000399677.1	+	0	15_26							Q7RTY9	PRS41_HUMAN	protease, serine, 41						proteolysis	anchored to membrane|plasma membrane	serine-type endopeptidase activity										GCGCGCGCGGggcgctgctgctggcgctgctg	0.797													3	6	---	---	---	---					
NOB1	28987	broad.mit.edu	37	16	69782978	69782980	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:69782978_69782980delTCC	ENST00000268802.5	-	6	596_598	c.567_569delGGA	c.(565-570)gaa>ga	p.EE189del		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	189	Poly-Glu.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCGTTTTCTTCCTCCTCCTCCT	0.522													13	310	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72822564	72822566	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr16:72822564_72822566delTGC	ENST00000268489.5	-	10	10281_10283	c.9609_9611delGCA	c.(9607-9612)caa>ca	p.QQ3203del	ZFHX3_ENST00000397992.5_In_Frame_Del_p.QQ2289del	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3203	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				cacctgtggttgctgctgctgct	0.650													7	599	---	---	---	---					
TP53	7157	broad.mit.edu	37	17	7579533	7579533	+	Frame_Shift_Del	DEL	G	G	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:7579533delG	ENST00000420246.2	-	4	286	c.154delC	c.(154-156)aafs	p.Q52fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.Q52fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.Q52fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.Q52fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.Q52fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	52	Interaction with HRMT1L2.		Q -> H (in a sporadic cancer; somatic mutation).		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.Q52*(12)|p.0?(8)|p.Q52>P*(1)|p.E51fs*59(1)|p.I50fs*4(1)|p.D48fs*55(1)|p.Q52fs*67(1)|p.Q52fs*6(1)|p.E51_Q52insX(1)|p.P13fs*18(1)|p.S33fs*23(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)		GTGAACCATTGTTCAATATCG	0.592		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)			18	1182	---	---	---	---					
NDEL1	81565	broad.mit.edu	37	17	8370271	8370273	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:8370271_8370273delCTC	ENST00000334527.7	+	9	1165_1167	c.968_970delCTC	c.(967-972)gct>g	p.AP323del	NDEL1_ENST00000380025.4_3'UTR|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Intron|NDEL1_ENST00000402554.3_3'UTR	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	323	Interaction with CENPF.|Interaction with NEFL (By similarity).				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						TTTGACCCCGCTCCTCCTCCTCC	0.576													8	397	---	---	---	---					
SLFN12	55106	broad.mit.edu	37	17	33749493	33749493	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:33749493delA	ENST00000394562.1	-	4	1078	c.555delT	c.(553-555)ttfs	p.F185fs	SLFN12_ENST00000304905.5_Frame_Shift_Del_p.F185fs|SLFN12_ENST00000452764.3_Frame_Shift_Del_p.F185fs			Q8IYM2	SLN12_HUMAN	schlafen family member 12	185							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTGTTCTATCAAAAAAAACCC	0.368													7	520	---	---	---	---					
GPATCH8	23131	broad.mit.edu	37	17	42477395	42477396	+	Frame_Shift_Ins	INS	-	-	T			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:42477395_42477396insT	ENST00000434000.1	-	9	2097_2098	c.1815_1816insA	c.(1813-1818)aaccagfs	p.NQ605fs	GPATCH8_ENST00000591680.1_Frame_Shift_Ins_p.NQ683fs			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	683						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TGTTTGCTGGATTTTTTGTGCT	0.460													7	1213	---	---	---	---					
CTD-2532D12.4	0	broad.mit.edu	37	17	71739871	71739872	+	RNA	INS	-	-	CCC	rs66548966	by1000genomes	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:71739871_71739872insCCC	ENST00000583854.1	+	0	166																											cccctcctcctcctcttctttc	0.500													5	9	---	---	---	---					
SLC26A11	284129	broad.mit.edu	37	17	78201649	78201651	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr17:78201649_78201651delTGC	ENST00000361193.3	+	7	906_908	c.626_628delTGC	c.(625-630)atg>a	p.ML209del	SLC26A11_ENST00000572725.1_In_Frame_Del_p.ML209del|SLC26A11_ENST00000411502.3_In_Frame_Del_p.ML209del|SLC26A11_ENST00000546047.2_In_Frame_Del_p.ML209del	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	209						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGGTCTGCATGCTGCTGCTGCT	0.675													8	424	---	---	---	---					
LIPE-AS1	0	broad.mit.edu	37	19	43136362	43136363	+	RNA	DEL	TG	TG	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr19:43136362_43136363delTG	ENST00000594688.1	+	0	1450				LIPE-AS1_ENST00000594624.2_RNA	NR_073179.1																						TGAGTATGTATGTGTGTGTGTG	0.505													7	116	---	---	---	---					
AP000265.1	0	broad.mit.edu	37	21	33632712	33632713	+	RNA	INS	-	-	AC	rs150266306	by1000genomes	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chr21:33632712_33632713insAC	ENST00000565959.1	-	0	1183_1184																											TCAGGTGTGAGACAGAGAGTAC	0.490													5	5	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del|PHF8_ENST00000357988.5_In_Frame_Del_p.E831del	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	831	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GACTGGCGTTCTCCTCCTCCTCC	0.591													14	446	---	---	---	---					
ATP2B3	492	broad.mit.edu	37	X	152845611	152845611	+	Frame_Shift_Del	DEL	C	C	-	rs149428057	byFrequency	TCGA-IB-AAUS-01A-12D-A38G-08	TCGA-IB-AAUS-10A-01D-A38J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	293aa717-d1ce-4617-9ae7-e60720808de0	0e32c414-6d67-4064-a1cf-8420c6c1ee88	g.chrX:152845611delC	ENST00000263519.4	+	20	3644	c.3518delC	c.(3517-3519)gcfs	p.A1173fs	ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000359149.3_3'UTR|ATP2B3_ENST00000349466.2_Frame_Shift_Del_p.A1173fs	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1173					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCCTCCGGGCCCCCCCGCCC	0.587													12	790	---	---	---	---					
