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
COASY	80347	broad.mit.edu	37	17	40717061	40717061	+	Missense_Mutation	SNP	A	A	G	rs145251799		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:40717061A>G	ENST00000393818.2	+	5	1754	c.1298A>G	c.(1297-1299)aAt>aGt	p.N433S	COASY_ENST00000420359.1_Missense_Mutation_p.N433S|COASY_ENST00000449624.1_Missense_Mutation_p.N138S|COASY_ENST00000590958.1_Missense_Mutation_p.N462S|COASY_ENST00000421097.2_Missense_Mutation_p.N433S	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	433	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	p.N433S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GTGTTTGGGAATAAGGTAAAC	0.522000													5	68					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													4	72					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137520631	137520631	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:137520631T>C	ENST00000394894.3	+	14	2045	c.1819T>C	c.(1819-1821)Tgc>Cgc	p.C607R	KIF20A_ENST00000508792.1_Missense_Mutation_p.C589R	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	607					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	p.C607R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGAACAGTGGTGCAGGTACTA	0.502000													55	391					0	0	1	0	0
SMCP	4184	broad.mit.edu	37	1	152856991	152856991	+	Silent	SNP	C	C	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:152856991C>A	ENST00000368765.3	+	2	243	c.93C>A	c.(91-93)ggC>ggA	p.G31G		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	31	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane		p.G31G(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTCAAAAGGCAATCAATGCT	0.507000													13	474					4.36969e-10	4.6578e-10	1	1	0
SLC22A6	9356	broad.mit.edu	37	11	62751060	62751060	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:62751060G>T	ENST00000377871.3	-	3	843	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000458333.2_Missense_Mutation_p.L193I|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L193I|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L193I	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	193					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.L193I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCGAGAGGAGCCGGAAGGCG	0.612000													11	7					5.50884e-06	5.68465e-06	1	1	0
SERPINI2	5276	broad.mit.edu	37	3	167167112	167167112	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:167167112G>A	ENST00000476257.1	-	8	1341	c.1043C>T	c.(1042-1044)aCa>aTa	p.T348I	SERPINI2_ENST00000471111.1_Missense_Mutation_p.T348I|SERPINI2_ENST00000264677.4_Missense_Mutation_p.T348I|SERPINI2_ENST00000461846.1_Missense_Mutation_p.T348I			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	348					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T348I(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACCAGTTGATGTTGCAGCTTC	0.383000													10	41					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	62					0	0	1	0	0
RSBN1L	222194	broad.mit.edu	37	7	77379331	77379331	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:77379331T>G	ENST00000334955.7	+	3	1321	c.1294T>G	c.(1294-1296)Ttg>Gtg	p.L432V	RSBN1L_ENST00000445288.1_Missense_Mutation_p.L162V	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	432						nucleus		p.L432V(11)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AATGGAGATATTGGGAAAGAA	0.303000													18	80					0	0	1	0	0
HSPA9	3313	broad.mit.edu	37	5	137906812	137906812	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:137906812C>T	ENST00000297185.3	-	4	372	c.247G>A	c.(247-249)Ggt>Agt	p.G83S		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	83					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	p.G83S(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTCTGGCACCTTCGGCATTC	0.483000													4	34					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162162	47162162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:47162162G>A	ENST00000409792.3	-	3	4006	c.3964C>T	c.(3964-3966)Cga>Tga	p.R1322*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R819*(2)|p.R1322*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCTTGAGTTCGATCATACACA	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma								80	171					0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49409050	49409050	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:49409050A>C	ENST00000405315.4	+	4	618	c.284A>C	c.(283-285)cAc>cCc	p.H95P	NUCB1_ENST00000263273.5_Missense_Mutation_p.H95P|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.H95P	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	95						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	p.H95P(2)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GTCAGCCACCACGTCCGCACC	0.622000													11	76					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936168	30936168	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:30936168G>A	ENST00000355537.3	+	2	1846	c.1699G>A	c.(1699-1701)Gtg>Atg	p.V567M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.V567M(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGGGAGTACGTGTTAGTGGG	0.532000													8	102					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4920909	4920909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr16:4920909G>T	ENST00000396658.4	+	10	2198	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*	UBN1_ENST00000590769.1_Nonsense_Mutation_p.E499*|UBN1_ENST00000262376.6_Nonsense_Mutation_p.E499*|UBN1_ENST00000545171.1_Nonsense_Mutation_p.E499*	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	499					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.E499*(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGAAGAAGATGAAGAAAAAGG	0.517000													5	150					0.000157383	0.000160697	1	1	0
SEMA3G	56920	broad.mit.edu	37	3	52473930	52473930	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:52473930C>T	ENST00000231721.2	-	11	1327	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	443	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity	p.R443H(2)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGCCTCCACGCGGTCCACCAC	0.647000													12	32					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160082226	160082226	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:160082226C>T	ENST00000263635.6	+	24	4076	c.3839C>T	c.(3838-3840)tCc>tTc	p.S1280F	TANC1_ENST00000454300.1_Missense_Mutation_p.S1174F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1280						cell junction|postsynaptic density|postsynaptic membrane	binding	p.S1280F(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATGGCCACTTCCAAACCTGAT	0.458000													3	58					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535600	27535600	+	RNA	SNP	T	T	C	rs640284	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:27535600T>C	ENST00000574842.1	+	0	255																											CACAGGTCAATTGCACATGGG	0.517000													9	318					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121495876	121495876	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:121495876C>T	ENST00000260197.7	+	46	6383	c.6254C>T	c.(6253-6255)tCc>tTc	p.S2085F	SORL1_ENST00000532694.1_Missense_Mutation_p.S931F|SORL1_ENST00000527934.1_Missense_Mutation_p.S700F|SORL1_ENST00000534286.1_Missense_Mutation_p.S995F|SORL1_ENST00000525532.1_Missense_Mutation_p.S1029F	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2085	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.S2085F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTAAAATTTCCAACCTGAAG	0.428000													8	253					0	0	1	0	0
CCDC144CP	348254	broad.mit.edu	37	17	20224797	20224797	+	RNA	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:20224797C>T	ENST00000580225.1	+	0	105				CCDC144CP_ENST00000340196.4_RNA																							GGTGGAAAAACAGCGTCGGCA	0.637000													4	129					0	0	1	0	0
EPB41L3	23136	broad.mit.edu	37	18	5416055	5416055	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr18:5416055T>C	ENST00000341928.2	-	13	2169	c.1829A>G	c.(1828-1830)aAc>aGc	p.N610S	EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N610S|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	610	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.N610S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTCAGAAAGGTTGGGGAAAGA	0.537000													8	273					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46604861	46604861	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr21:46604861C>T	ENST00000539173.1	+	9	1975	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	ADARB1_ENST00000360697.3_Missense_Mutation_p.R514C|ADARB1_ENST00000389863.4_Missense_Mutation_p.R514C|ADARB1_ENST00000348831.4_Missense_Mutation_p.R474C|ADARB1_ENST00000437626.1_3'UTR	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	514	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	p.R514C(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ACACCCAAATCGTAAAGCAAG	0.453000													7	243					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1902301	1902301	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:1902301G>A	ENST00000358771.4	+	3	849	c.697G>A	c.(697-699)Gtc>Atc	p.V233I	SIRPA_ENST00000400068.3_Missense_Mutation_p.V233I|SIRPA_ENST00000356025.3_Missense_Mutation_p.V233I	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	233	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.V233I(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		GGTGGCCCACGTCACCTTGCA	0.617000													7	123					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													36	439					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19379455	19379455	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:19379455C>T	ENST00000389363.4	-	6	665	c.593G>A	c.(592-594)cGc>cAc	p.R198H	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	198						integral to membrane		p.R198H(2)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GGCGGTGCAGCGGGTTAGCGC	0.572000													7	42					0	0	1	0	0
EMP1	2012	broad.mit.edu	37	12	13366731	13366731	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:13366731T>C	ENST00000256951.5	+	4	491	c.292T>C	c.(292-294)Tca>Cca	p.S98P	EMP1_ENST00000544053.1_Missense_Mutation_p.S31P|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000396301.3_Missense_Mutation_p.S98P|EMP1_ENST00000431267.2_Missense_Mutation_p.S31P|EMP1_ENST00000537612.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	98					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GTTCTTCCTCTCAGGGGCCAC	0.493000													7	358					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20009542	20009542	+	Silent	SNP	C	C	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:20009542C>A	ENST00000294543.6	-	16	2137	c.1896G>T	c.(1894-1896)ggG>ggT	p.G632G	TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000375122.2_Silent_p.G592G|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	632						integral to membrane		p.G632G(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GTCAGTCCAGCCCCGTGCTGG	0.642000													3	24					1	1	1	1	0
STEAP1B	256227	broad.mit.edu	37	7	22532260	22532260	+	Missense_Mutation	SNP	A	A	G	rs62447564	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:22532260A>G	ENST00000404369.4	-	4	1101	c.686T>C	c.(685-687)aTa>aCa	p.I229T	STEAP1B_ENST00000406890.2_Missense_Mutation_p.I210T	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	210						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						CAGAGCCAGTATTGCCAGTCC	0.393000													6	197					0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117568153	117568153	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:117568153A>C	ENST00000374045.4	-	1	253	c.140T>G	c.(139-141)cTt>cGt	p.L47R		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	47					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.L47R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GAGTCCTGCAAGGAAGGGGAG	0.632000													37	129					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734750	92734750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:92734750G>A	ENST00000379958.2	-	3	930	c.661C>T	c.(661-663)Cga>Tga	p.R221*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	221						cytoplasm		p.R221*(2)|p.R221R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAGCAAATCGGAAAACCTCA	0.398000													24	285					0	0	1	0	0
DDIT4	54541	broad.mit.edu	37	10	74033978	74033978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:74033978C>T	ENST00000307365.3	+	2	205	c.4C>T	c.(4-6)Cct>Tct	p.P2S		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	2					apoptosis			p.P2S(2)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCTCACCATGCCTAGCCTTTG	0.647000													23	46					0	0	1	0	0
SIRPA	140885	broad.mit.edu	37	20	1902292	1902292	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:1902292G>A	ENST00000358771.4	+	3	840	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	SIRPA_ENST00000400068.3_Missense_Mutation_p.V230M|SIRPA_ENST00000356025.3_Missense_Mutation_p.V230M	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	230	Ig-like C1-type 1.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.V230M(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CATCTGCGAGGTGGCCCACGT	0.612000													5	125					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	88					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129140588	129140588	+	Silent	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:129140588C>T	ENST00000505956.1	-	2	270	c.108G>A	c.(106-108)ccG>ccA	p.P36P	EFCAB12_ENST00000326085.3_Silent_p.P36P	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12									p.P36P(1)									GGGCAATGACCGGTTCAGGAT	0.527000													11	88					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													14	244					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64518664	64518664	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:64518664G>T	ENST00000358025.3	+	48	8263	c.8033G>T	c.(8032-8034)gGa>gTa	p.G2678V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.G2711V|SYNE2_ENST00000344113.4_Missense_Mutation_p.G2678V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2678					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.G2678V(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAAGCATGGATTTTCTGTT	0.433000													90	223					7.79711e-59	8.40355e-59	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31294527	31294527	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:31294527G>C	ENST00000542188.1	-	27	4740	c.4427C>G	c.(4426-4428)tCc>tGc	p.S1476C	TRPM1_ENST00000256552.6_Missense_Mutation_p.S1459C|TRPM1_ENST00000397795.2_Missense_Mutation_p.S1437C|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1437					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.S1437C(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAAGCTTCTGGACTTCATTGT	0.453000													61	172					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25753502	25753502	+	RNA	SNP	C	C	T	rs35094692	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:25753502C>T	ENST00000586223.1	+	0	1512					NR_033892.1																						CTCGGGCTCACCCCGTGCCTG	0.567000													5	93					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047069	9047069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:9047069G>A	ENST00000397910.4	-	5	34765	c.34562C>T	c.(34561-34563)gCc>gTc	p.A11521V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11523	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A11521V(2)|p.A7154V(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGTGATGGCTACTGGGAG	0.507000													125	873					0	0	1	0	0
HLA-V	352962	broad.mit.edu	37	6	29761676	29761676	+	RNA	SNP	C	C	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:29761676C>G	ENST00000457107.1	+	0	902																											gagagggtttcatattcaaga	0.493000													5	43					0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31233830	31233830	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:31233830G>A	ENST00000435680.1	-	16	2274	c.2177C>T	c.(2176-2178)aCc>aTc	p.T726I	FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	726							phosphatase activity	p.T726I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CGAGGTGTCGGTGTGGTGAGG	0.572000													6	20					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	121003284	121003284	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:121003284C>T	ENST00000325954.4	+	12	2298	c.1837C>T	c.(1837-1839)Cgc>Tgc	p.R613C	RNF10_ENST00000413266.2_Missense_Mutation_p.R618C	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	613					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R613C(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAGGAACGCCGCCGAGAGCG	0.488000													7	114					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52870089	52870089	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:52870089A>T	ENST00000356971.3	-	15	2246	c.1757T>A	c.(1756-1758)cTg>cAg	p.L586Q	ICK_ENST00000350082.5_Missense_Mutation_p.L586Q	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	586					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.L586Q(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CATGGCCTTCAGGGAGGAATA	0.502000													47	174					0	0	1	0	0
IGHV4OR15-8	28317	broad.mit.edu	37	15	22473194	22473194	+	RNA	SNP	G	G	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:22473194G>C	ENST00000557788.2	-	0	76																											TCCTGGGCCCGACTCCTGCAG	0.617000													4	121					0	0	1	0	0
TRGC1	6966	broad.mit.edu	37	7	38304986	38304986	+	RNA	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:38304986C>T	ENST00000443402.2	-	0	293					NM_001003799.1|NM_001003806.1	NP_001003799.1|NP_001003806.1																					TCTTGATCAACTCCGTTTTTA	0.363000													4	142					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058316	11058316	+	RNA	SNP	G	G	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr21:11058316G>T	ENST00000470054.1	-	0	331									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTACAAAATGCACATCGCTG	0.388000													27	483					9.93527e-08	1.04752e-07	1	1	0
IL4I1	259307	broad.mit.edu	37	19	50394693	50394693	+	Missense_Mutation	SNP	G	G	A	rs61730216	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:50394693G>A	ENST00000595948.1	-	8	1291	c.671C>T	c.(670-672)gCg>gTg	p.A224V	IL4I1_ENST00000391826.2_Missense_Mutation_p.A202V|IL4I1_ENST00000341114.3_Missense_Mutation_p.A224V	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	202						lysosome	L-amino-acid oxidase activity	p.A224V(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CTTCTTCATCGCCTTTCTGCA	0.582000													3	55					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192471	152192471	+	Missense_Mutation	SNP	C	C	T	rs146592977	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:152192471C>T	ENST00000368801.2	-	3	1709	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	545					keratinization		calcium ion binding|protein binding	p.R545H(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCGGCCACGGCTAGGGCT	0.587000													6	184					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50864307	50864307	+	Silent	SNP	A	A	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:50864307A>G	ENST00000253719.2	-	5	767	c.559T>C	c.(559-561)Ttg>Ctg	p.L187L	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	187					proteolysis	extracellular region	aspartic-type endopeptidase activity	p.L187L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CCGAGGCCCAATATCCCATCA	0.532000													5	149					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36640637	36640637	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:36640637C>T	ENST00000373448.2	-	3	1820	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.E528K|TTI1_ENST00000449821.1_Missense_Mutation_p.E528K	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	528							binding	p.E528K(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTAACCAGTTCATTAAGGATC	0.408000													9	49					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6710828	6710828	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:6710828G>A	ENST00000245907.6	-	13	1600	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	503					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.A503V(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGGCGTCCCGCCTTCAACAG	0.662000													5	38					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29598221	29598221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:29598221C>G	ENST00000318184.5	-	23	2870	c.2871G>C	c.(2869-2871)ttG>ttC	p.L957F	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	957	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.L957F(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTAGGACTTTCAAGACAATAT	0.353000													25	149					0	0	1	0	0
NRXN3	9369	broad.mit.edu	37	14	79933747	79933747	+	Splice_Site	SNP	T	T	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:79933747T>G	ENST00000281127.7	+	2	1308		c.e2+2		NRXN3_ENST00000556003.1_Splice_Site|NRXN3_ENST00000557594.1_Splice_Site|NRXN3_ENST00000428277.2_Splice_Site|NRXN3_ENST00000335750.5_Splice_Site|NRXN3_ENST00000554719.1_Splice_Site	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3						angiogenesis|cell adhesion	integral to membrane		p.?(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTCACATAGTGAGTACAGGG	0.512000													13	154					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085756	92085756	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:92085756C>T	ENST00000298047.6	+	1	495	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	FAT3_ENST00000409404.2_Missense_Mutation_p.P160S|FAT3_ENST00000525166.1_Missense_Mutation_p.P10S|FAT3_ENST00000541502.1_Missense_Mutation_p.P160S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	160	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P160S(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTGTTTTCACCCACAACATA	0.413000										TCGA Ovarian(4;0.039)			25	77					0	0	1	0	0
LRRC57	255252	broad.mit.edu	37	15	42840384	42840384	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:42840384T>C	ENST00000323443.2	-	2	510	c.143A>G	c.(142-144)aAc>aGc	p.N48S	LRRC57_ENST00000397130.3_Missense_Mutation_p.N48S|LRRC57_ENST00000563454.1_Missense_Mutation_p.N48S			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	48								p.N48S(2)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TTCGATCTTGTTGTTGGACAA	0.532000													16	192					0	0	1	0	0
DDX49	54555	broad.mit.edu	37	19	19032540	19032540	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:19032540T>C	ENST00000247003.4	+	3	375	c.308T>C	c.(307-309)aTc>aCc	p.I103T	DDX49_ENST00000438170.2_5'UTR|AC002985.3_ENST00000596918.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	103	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.I103T(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			AAAGACTGCATCATCGTCGGT	0.652000													14	39					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2933387	2933387	+	Silent	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:2933387G>A	ENST00000381130.2	+	4	717	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	239						integral to membrane	arylsulfatase activity|metal ion binding	p.E239E(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				TGAAAGAGGAGAAAGTAGCTT	0.388000													28	36					0	0	1	0	0
MRPS34	65993	broad.mit.edu	37	16	1822333	1822333	+	Silent	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr16:1822333T>C	ENST00000177742.3	-	3	597	c.567A>G	c.(565-567)ggA>ggG	p.G189G	MRPS34_ENST00000397375.2_Silent_p.G182G			P82930	RT34_HUMAN	mitochondrial ribosomal protein S34	182						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						TGCTTGTGTCTCCATTTTTCT	0.592000													2	9					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207558023	207558023	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:207558023G>A	ENST00000452335.2	-	9	972	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	286						plasma membrane	zinc ion binding	p.L286F(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTGAAGAGAAGTTTTGTATTC	0.483000													58	122					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													23	213					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025358	207025358	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:207025358A>G	ENST00000392222.2	+	2	502	c.127A>G	c.(127-129)Agc>Ggc	p.S43G	EEF1B2_ENST00000392221.1_Missense_Mutation_p.S43G|EEF1B2_ENST00000236957.5_Missense_Mutation_p.S43G	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	43	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.S43G(4)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						AGCCGTGTCCAGCCCACCGCC	0.468000													4	65					0	0	1	0	0
WDR76	79968	broad.mit.edu	37	15	44158424	44158424	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:44158424G>A	ENST00000263795.6	+	13	1785	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	WDR76_ENST00000381246.2_Missense_Mutation_p.R508Q|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	572										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GCCCATCCACGACGGGTAGAA	0.512000													7	269					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119474252	119474252	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:119474252T>C	ENST00000369429.3	-	2	418	c.409A>G	c.(409-411)Aaa>Gaa	p.K137E	TBX15_ENST00000207157.3_Missense_Mutation_p.K31E			Q96SF7	TBX15_HUMAN	T-box 15	137						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K31E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTGCTTTGGTGATGATC	0.448000													6	145					0	0	1	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													22	92					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160104993	160104993	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:160104993C>G	ENST00000409990.3	-	10	1419	c.1163G>C	c.(1162-1164)aGg>aCg	p.R388T	WDSUB1_ENST00000392796.3_Missense_Mutation_p.R388T|WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R388T|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R296T	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	388	SAM.					ubiquitin ligase complex	ubiquitin-protein ligase activity	p.R388T(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTCAATTTTCCTCAGCACTTT	0.378000													44	107					0	0	1	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													19	319					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393551	145393551	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:145393551T>C	ENST00000511217.1	+	4	1038	c.986T>C	c.(985-987)aTc>aCc	p.I329T	SH3RF2_ENST00000359120.4_Missense_Mutation_p.I329T			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	329							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.I329T(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTGCTCATCAGCTCCAGC	0.562000													30	1077					0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55019211	55019211	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:55019211G>A	ENST00000301202.2	+	3	298	c.176G>A	c.(175-177)cGc>cAc	p.R59H	LAIR2_ENST00000351841.2_Missense_Mutation_p.R59H	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	59	Ig-like C2-type.					extracellular region	receptor activity	p.R59H(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CAAACATTCCGCCTGGAGAGG	0.537000													20	58					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23313199	23313199	+	Missense_Mutation	SNP	A	A	G	rs144208310	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:23313199A>G	ENST00000258733.4	+	10	1784	c.1489A>G	c.(1489-1491)Ata>Gta	p.I497V	GPNMB_ENST00000478451.1_3'UTR|GPNMB_ENST00000453162.2_Missense_Mutation_p.I451V|GPNMB_ENST00000381990.2_Missense_Mutation_p.I509V|GPNMB_ENST00000539136.1_Missense_Mutation_p.I398V			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	509					negative regulation of cell proliferation	melanosome		p.I509V(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTGCTTGGCCATATTTGTCAC	0.428000													5	167					0	0	1	0	0
CCL2	6347	broad.mit.edu	37	17	32583777	32583777	+	Silent	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:32583777C>T	ENST00000225831.4	+	3	296	c.231C>T	c.(229-231)gaC>gaT	p.D77D	CCL2_ENST00000580907.1_3'UTR	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	77					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity	p.D77D(2)		kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	TCTGTGCTGACCCCAAGCAGA	0.517000													65	241					0	0	1	0	0
POM121C	100101267	broad.mit.edu	37	7	75050948	75050948	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:75050948C>T	ENST00000453279.2	-	13	3451	c.2587G>A	c.(2587-2589)Gga>Aga	p.G863R	POM121C_ENST00000257665.5_Missense_Mutation_p.G1105R	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1105	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	p.G863R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGAAAGCTCCGGTGGTGGCG	0.652000													3	8					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54339839	54339839	+	Silent	SNP	G	G	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr18:54339839G>C	ENST00000254442.3	+	2	304	c.93G>C	c.(91-93)ggG>ggC	p.G31G	WDR7_ENST00000357574.3_Silent_p.G31G|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	31								p.G31G(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CAGATGATGGGGCCACGATCG	0.443000													8	208					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154493861	154493861	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:154493861G>C	ENST00000368482.4	+	6	1113	c.275G>C	c.(274-276)gGt>gCt	p.G92A	TDRD10_ENST00000368480.3_Missense_Mutation_p.G92A|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	92	RRM.						nucleotide binding|RNA binding	p.G92A(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGCTGAATGGTAAACTCTTC	0.507000													13	315					0	0	1	0	0
IFITM3	10410	broad.mit.edu	37	11	320606	320606	+	Missense_Mutation	SNP	G	G	T	rs149004156	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:320606G>T	ENST00000399808.4	-	1	444	c.208C>A	c.(208-210)Ccc>Acc	p.P70T	IFITM3_ENST00000602735.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602756.1_RNA|IFITM3_ENST00000526811.1_Missense_Mutation_p.P49T|RP11-326C3.11_ENST00000602429.1_RNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	70	Interaction with SPP1.				response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane		p.P70T(3)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGGCAGCAGGGGTTCATGAAG	0.632000													4	100					0.0293803	0.0296864	1	1	0
FABP5P3	220832	broad.mit.edu	37	7	152139674	152139674	+	RNA	SNP	A	A	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:152139674A>G	ENST00000477993.1	+	0	429					NR_002935.1																						CTGGTGGACAACAAAGGCTTT	0.547000													2	7					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49331920	49331920	+	Silent	SNP	A	A	G	rs61761586		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:49331920A>G	ENST00000351842.4	-	13	1670	c.1662T>C	c.(1660-1662)taT>taC	p.Y554Y	USP4_ENST00000265560.4_Silent_p.Y601Y	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	601					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GTGGCTGCCCATATAGCGCTG	0.522000													5	200					0	0	1	0	0
RASAL3	64926	broad.mit.edu	37	19	15565635	15565635	+	Missense_Mutation	SNP	C	C	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:15565635C>A	ENST00000343625.6	-	12	1871	c.1791G>T	c.(1789-1791)gaG>gaT	p.E597D		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3	597	Ras-GAP.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity	p.E597D(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GGCCCAGCACCTCAGAGCCAC	0.612000											OREG0025322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	3	14					0.115264	0.117546	0.115264	1	0
FRG1B	284802	broad.mit.edu	37	20	29625947	29625947	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:29625947T>C	ENST00000278882.3	+	5	571	c.191T>C	c.(190-192)aTt>aCt	p.I64T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I64T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I69T														p.I64T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TCAGATGCAATTGGACCAAGA	0.343000													9	123					0	0	0.361761	0	0
KIF20A	10112	broad.mit.edu	37	5	137520631	137520631	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:137520631T>C	ENST00000394894.3	+	14	2045	c.1819T>C	c.(1819-1821)Tgc>Cgc	p.C607R	KIF20A_ENST00000508792.1_Missense_Mutation_p.C589R	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	607					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	p.C607R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGAACAGTGGTGCAGGTACTA	0.502000													33	268					0	0	0.804634	0	0
SMCP	4184	broad.mit.edu	37	1	152856991	152856991	+	Silent	SNP	C	C	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:152856991C>A	ENST00000368765.3	+	2	243	c.93C>A	c.(91-93)ggC>ggA	p.G31G		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	31	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane		p.G31G(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTCAAAAGGCAATCAATGCT	0.507000													5	242					0.0215528	0.0224236	0.217242	1	0
ITLN2	142683	broad.mit.edu	37	1	160920490	160920490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:160920490G>T	ENST00000368029.3	-	5	510	c.453C>A	c.(451-453)taC>taA	p.Y151*	ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	151	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGATGTCGTAGTAGCCAGGGT	0.597000													6	145					0.0381472	0.0392916	0.278610	1	0
SLC22A6	9356	broad.mit.edu	37	11	62751060	62751060	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:62751060G>T	ENST00000377871.3	-	3	843	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	SLC22A6_ENST00000458333.2_Missense_Mutation_p.L193I|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L193I|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L193I|SLC22A6_ENST00000537349.1_5'UTR	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	193					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.L193I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCGAGAGGAGCCGGAAGGCG	0.612000													7	14					0.00307968	0.00327017	0.278610	1	0
SYNE2	23224	broad.mit.edu	37	14	64518664	64518664	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:64518664G>T	ENST00000358025.3	+	48	8263	c.8033G>T	c.(8032-8034)gGa>gTa	p.G2678V	SYNE2_ENST00000344113.4_Missense_Mutation_p.G2678V|SYNE2_ENST00000554584.1_Missense_Mutation_p.G2711V|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2678					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.G2678V(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAAGCATGGATTTTCTGTT	0.433000													97	231					1.53058e-52	1.71358e-52	0.870114	1	0
TRPM1	4308	broad.mit.edu	37	15	31294527	31294527	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:31294527G>C	ENST00000542188.1	-	27	4740	c.4427C>G	c.(4426-4428)tCc>tGc	p.S1476C	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S1437C|TRPM1_ENST00000256552.6_Missense_Mutation_p.S1459C	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1437					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.S1437C(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAAGCTTCTGGACTTCATTGT	0.453000													53	162					0	0	0.870114	0	0
SERPINI2	5276	broad.mit.edu	37	3	167167112	167167112	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:167167112G>A	ENST00000476257.1	-	8	1341	c.1043C>T	c.(1042-1044)aCa>aTa	p.T348I	SERPINI2_ENST00000471111.1_Missense_Mutation_p.T348I|SERPINI2_ENST00000264677.4_Missense_Mutation_p.T348I|SERPINI2_ENST00000461846.1_Missense_Mutation_p.T348I			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	348					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T348I(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACCAGTTGATGTTGCAGCTTC	0.383000													14	69					0	0	0.479597	0	0
HSPA9	3313	broad.mit.edu	37	5	137906812	137906812	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:137906812C>T	ENST00000297185.3	-	4	372	c.247G>A	c.(247-249)Ggt>Agt	p.G83S		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	83					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	p.G83S(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTCTGGCACCTTCGGCATTC	0.483000													9	88					0	0	0.307466	0	0
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V														p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333000													7	127					0	0	0.361761	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135770096	135770096	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:135770096G>C	ENST00000250617.6	-	11	2445	c.1240C>G	c.(1240-1242)Ctc>Gtc	p.L414V	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.L260V|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.L260V|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.L287V	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	414	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CCTACCATGAGAGTTTTGAAT	0.353000													4	127					0	0	0.184627	0	0
ZNF876P	642280	broad.mit.edu	37	4	206531	206531	+	RNA	SNP	C	C	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:206531C>G	ENST00000356347.3	+	0	133					NR_027481.1																						TTGGATGATTCGTAGCTAAGA	0.632000													3	37					0	0	0.115264	0	0
NUCB1	4924	broad.mit.edu	37	19	49409050	49409050	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:49409050A>C	ENST00000405315.4	+	4	618	c.284A>C	c.(283-285)cAc>cCc	p.H95P	NUCB1_ENST00000407032.1_Missense_Mutation_p.H95P|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Missense_Mutation_p.H95P	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	95						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	p.H95P(2)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GTCAGCCACCACGTCCGCACC	0.622000													7	115					0	0	0.278610	0	0
ZNF536	9745	broad.mit.edu	37	19	30936168	30936168	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:30936168G>A	ENST00000355537.3	+	2	1846	c.1699G>A	c.(1699-1701)Gtg>Atg	p.V567M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.V567M(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGGGAGTACGTGTTAGTGGG	0.532000													19	187					0	0	0.608945	0	0
SEMA3G	56920	broad.mit.edu	37	3	52473930	52473930	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:52473930C>T	ENST00000231721.2	-	11	1327	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	443	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity	p.R443H(2)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGCCTCCACGCGGTCCACCAC	0.647000													50	93					0	0	0.870114	0	0
ENPP6	133121	broad.mit.edu	37	4	185038032	185038032	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:185038032G>A	ENST00000296741.2	-	5	973	c.832C>T	c.(832-834)Ccg>Tcg	p.P278S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	278					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CCAGGGGCCGGCCAAAGGCTC	0.567000													4	166					0	0	0.150653	0	0
C3	718	broad.mit.edu	37	19	6710828	6710828	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:6710828G>A	ENST00000245907.6	-	13	1600	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	503					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.A503V(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGGCGTCCCGCCTTCAACAG	0.662000													7	104					0	0	0.248553	0	0
PDGFRB	5159	broad.mit.edu	37	5	149503902	149503902	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:149503902T>G	ENST00000261799.4	-	14	2403	c.1934A>C	c.(1933-1935)aAg>aCg	p.K645T		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	645	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.K645T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGGGCTTGCTTCTCACTGCT	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								5	82					0	0	0.217242	0	0
BAGE2	85319	broad.mit.edu	37	21	11058322	11058322	+	RNA	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383000													10	285					0	0	0.411799	0	0
TM6SF2	53345	broad.mit.edu	37	19	19379455	19379455	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:19379455C>T	ENST00000389363.4	-	6	665	c.593G>A	c.(592-594)cGc>cAc	p.R198H	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	198						integral to membrane		p.R198H(2)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GGCGGTGCAGCGGGTTAGCGC	0.572000													15	105					0	0	0.520397	0	0
TNFSF15	9966	broad.mit.edu	37	9	117568153	117568153	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:117568153A>C	ENST00000374045.4	-	1	253	c.140T>G	c.(139-141)cTt>cGt	p.L47R		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	47					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.L47R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GAGTCCTGCAAGGAAGGGGAG	0.632000													35	127					0	0	0.796494	0	0
SAMD9	54809	broad.mit.edu	37	7	92734750	92734750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:92734750G>A	ENST00000379958.2	-	3	930	c.661C>T	c.(661-663)Cga>Tga	p.R221*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	221						cytoplasm		p.R221*(2)|p.R221R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAGCAAATCGGAAAACCTCA	0.398000													23	258					0	0	0.654019	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552000		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)			5	102					0	0	0.184627	0	0
DDIT4	54541	broad.mit.edu	37	10	74033978	74033978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:74033978C>T	ENST00000307365.3	+	2	205	c.4C>T	c.(4-6)Cct>Tct	p.P2S		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	2					apoptosis			p.P2S(2)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCTCACCATGCCTAGCCTTTG	0.647000													48	108					0	0	0.870114	0	0
HSPA2	3306	broad.mit.edu	37	14	65009188	65009188	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:65009188G>A	ENST00000247207.6	+	1	2003	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	HSPA2_ENST00000394709.1_Missense_Mutation_p.A541T	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	541					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCGAGTCGCGGCCAAAAACGC	0.537000													4	191					0	0	0.150653	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				33	115					0	0	0.779181	0	0
DAPK1	1612	broad.mit.edu	37	9	90254339	90254339	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:90254339C>T	ENST00000469640.2	+	5	869	c.494C>T	c.(493-495)gCc>gTc	p.A165V	DAPK1_ENST00000472284.1_Missense_Mutation_p.A165V|DAPK1_ENST00000358077.5_Missense_Mutation_p.A165V|DAPK1_ENST00000408954.3_Missense_Mutation_p.A165V|DAPK1_ENST00000491893.1_Missense_Mutation_p.A165V			P53355	DAPK1_HUMAN	death-associated protein kinase 1	165	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TTTGGGTTGGCCCATAAAATT	0.363000									Chronic Lymphocytic Leukemia, Familial Clustering of				4	197					0	0	0.150653	0	0
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C	rs145412486	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P														p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363000													17	158					0	0	0.575678	0	0
FAM86B2	653333	broad.mit.edu	37	8	12285220	12285220	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr8:12285220C>T	ENST00000262365.4	-	7	837	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	FAM86B2_ENST00000309608.5_3'UTR|FAM86B2_ENST00000351291.4_Missense_Mutation_p.V246M|FAM86B2_ENST00000393715.3_Missense_Mutation_p.V52M	NM_001137610.1	NP_001131082.1	P0C5J1	F86B2_HUMAN	family with sequence similarity 86, member B2	280										endometrium(1)|kidney(2)	3						GTAAAGGCCACGTAGACCTCA	0.652000													3	56					0	0	0.184627	0	0
SHROOM1	134549	broad.mit.edu	37	5	132158801	132158801	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:132158801A>C	ENST00000378679.3	-	10	3050	c.2246T>G	c.(2245-2247)cTc>cGc	p.L749R	SHROOM1_ENST00000378676.1_Missense_Mutation_p.L680R|SHROOM1_ENST00000319854.3_Missense_Mutation_p.L744R	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	749	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding	p.L744R(1)		endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGGAGCCGGAGTCGCTGCAG	0.726000													4	6					0	0	0.248553	0	0
OVCH1	341350	broad.mit.edu	37	12	29598221	29598221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:29598221C>G	ENST00000318184.5	-	23	2870	c.2871G>C	c.(2869-2871)ttG>ttC	p.L957F	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	957	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.L957F(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTAGGACTTTCAAGACAATAT	0.353000													8	98					0	0	0.335167	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs140267598	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3																						ACTACCCAGATGAGCTGCAGT	0.488000													6	211					0	0	0.435327	0	0
GOLGA6L17P	642402	broad.mit.edu	37	15	85053142	85053142	+	RNA	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:85053142C>T	ENST00000414190.2	-	0	310					NR_003246.2																						TTTTTCAATTCCTTGACCCGC	0.413000													3	16					0	0	0.115264	0	0
MUC16	94025	broad.mit.edu	37	19	9047069	9047069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:9047069G>A	ENST00000397910.4	-	5	34765	c.34562C>T	c.(34561-34563)gCc>gTc	p.A11521V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11523	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A11521V(2)|p.A7154V(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGTGATGGCTACTGGGAG	0.507000													17	97					0	0	0.539581	0	0
OLFML2A	169611	broad.mit.edu	37	9	127561738	127561738	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:127561738A>C	ENST00000373580.3	+	4	637	c.637A>C	c.(637-639)Acc>Ccc	p.T213P		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	213								p.T213P(1)		endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CGCCCCTGCCACCCCTGCCAC	0.647000													3	4					0	0	0.361761	0	0
POTEH	23784	broad.mit.edu	37	22	16287511	16287511	+	Silent	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr22:16287511G>A	ENST00000343518.6	-	1	426	c.375C>T	c.(373-375)gaC>gaT	p.D125D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	125										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCATAGCAGAGTCGTCGTGGT	0.612000													6	472					0	0	0.278610	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114410	27114410	+	Silent	SNP	G	G	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:27114410G>C	ENST00000396891.4	-	1	209	c.168C>G	c.(166-168)tcC>tcG	p.S56S	HIST1H2BK_ENST00000356950.1_Silent_p.S56S	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	56					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	p.S56S(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGGCCTTAGAGGAGATGCCGG	0.577000													9	506					0	0	0.387290	0	0
MTMR10	54893	broad.mit.edu	37	15	31233830	31233830	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:31233830G>A	ENST00000435680.1	-	16	2274	c.2177C>T	c.(2176-2178)aCc>aTc	p.T726I	FAN1_ENST00000362065.4_3'UTR|MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	726							phosphatase activity	p.T726I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CGAGGTGTCGGTGTGGTGAGG	0.572000													4	29					0	0	0.150653	0	0
PATZ1	23598	broad.mit.edu	37	22	31741165	31741165	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr22:31741165A>T	ENST00000266269.5	-	1	1053	c.424T>A	c.(424-426)Ttc>Atc	p.F142I	PATZ1_ENST00000351933.4_Missense_Mutation_p.F142I|PATZ1_ENST00000215919.3_Missense_Mutation_p.F142I|PATZ1_ENST00000405309.3_Missense_Mutation_p.F142I	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	142					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F142I(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ATCAGCAGGAACTTGGCGGCC	0.542000													9	408					0	0	0.387290	0	0
ICK	22858	broad.mit.edu	37	6	52870089	52870089	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:52870089A>T	ENST00000356971.3	-	15	2246	c.1757T>A	c.(1756-1758)cTg>cAg	p.L586Q	ICK_ENST00000350082.5_Missense_Mutation_p.L586Q	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	586					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.L586Q(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CATGGCCTTCAGGGAGGAATA	0.502000													22	84					0	0	0.608945	0	0
CASQ1	844	broad.mit.edu	37	1	160167365	160167365	+	Silent	SNP	C	C	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:160167365C>A	ENST00000368079.3	+	7	1046	c.771C>A	c.(769-771)acC>acA	p.T257T	CASQ1_ENST00000368078.3_Silent_p.T263T	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	263						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTAGATCAACCCTGAGGAAAC	0.562000													4	135					0.00024832	0.000266427	0.150653	1	0
BAGE2	85319	broad.mit.edu	37	21	11058316	11058316	+	RNA	SNP	G	G	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr21:11058316G>T	ENST00000470054.1	-	0	331									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTACAAAATGCACATCGCTG	0.388000													9	307					2.80697e-09	3.04335e-09	0.387290	1	0
SETD2	29072	broad.mit.edu	37	3	47162162	47162162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:47162162G>A	ENST00000409792.3	-	3	4006	c.3964C>T	c.(3964-3966)Cga>Tga	p.R1322*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R819*(2)|p.R1322*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCTTGAGTTCGATCATACACA	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma								33	102					0	0	0.769981	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188577	37188577	+	RNA	SNP	T	T	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:37188577T>G	ENST00000425901.2	+	0	2419					NR_033753.2																						ACATATGTGATCTCTGTACCT	0.517000													4	217					0	0	0.248553	0	0
TTI1	9675	broad.mit.edu	37	20	36640637	36640637	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:36640637C>T	ENST00000373448.2	-	3	1820	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	TTI1_ENST00000449821.1_Missense_Mutation_p.E528K|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.E528K	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	528							binding	p.E528K(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTAACCAGTTCATTAAGGATC	0.408000													22	95					0	0	0.654019	0	0
BAGE2	85319	broad.mit.edu	37	21	11058168	11058168	+	RNA	SNP	A	A	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr21:11058168A>T	ENST00000470054.1	-	0	479									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TACATCTTTCAGGAGCTTGGT	0.388000													6	181					0	0	0.307466	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981765	61981765	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:61981765C>T	ENST00000370263.4	-	5	1219	c.998G>A	c.(997-999)cGc>cAc	p.R333H	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	333					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R333H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCGTGGCGAGCGGTGGTGCAC	0.612000													4	153					0	0	0.217242	0	0
SORL1	6653	broad.mit.edu	37	11	121495876	121495876	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:121495876C>T	ENST00000260197.7	+	46	6383	c.6254C>T	c.(6253-6255)tCc>tTc	p.S2085F	SORL1_ENST00000532694.1_Missense_Mutation_p.S931F|SORL1_ENST00000525532.1_Missense_Mutation_p.S1029F|SORL1_ENST00000534286.1_Missense_Mutation_p.S995F|SORL1_ENST00000527934.1_Missense_Mutation_p.S700F	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2085	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.S2085F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTAAAATTTCCAACCTGAAG	0.428000													7	250					0	0	0.335167	0	0
PDGFRB	5159	broad.mit.edu	37	5	149503898	149503898	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:149503898T>A	ENST00000261799.4	-	14	2407	c.1938A>T	c.(1936-1938)caA>caT	p.Q646H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	646	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.Q646H(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACATAAGGGCTTGCTTCTCAC	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								5	89					0	0	0.217242	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481181	142481181	+	RNA	SNP	G	G	A	rs150010377	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:142481181G>A	ENST00000603901.1	+	0	255					NR_001296.3																						AGGGGAATGAGCAGTTCATCA	0.517000													4	143					0	0	0.500413	0	0
FAT3	120114	broad.mit.edu	37	11	92085756	92085756	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:92085756C>T	ENST00000298047.6	+	1	495	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	FAT3_ENST00000541502.1_Missense_Mutation_p.P160S|FAT3_ENST00000409404.2_Missense_Mutation_p.P160S|FAT3_ENST00000525166.1_Missense_Mutation_p.P10S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	160	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P160S(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTGTTTTCACCCACAACATA	0.413000										TCGA Ovarian(4;0.039)			24	72					0	0	0.693898	0	0
LRRC57	255252	broad.mit.edu	37	15	42840384	42840384	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:42840384T>C	ENST00000323443.2	-	2	510	c.143A>G	c.(142-144)aAc>aGc	p.N48S	LRRC57_ENST00000397130.3_Missense_Mutation_p.N48S|LRRC57_ENST00000563454.1_Missense_Mutation_p.N48S			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	48								p.N48S(2)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TTCGATCTTGTTGTTGGACAA	0.532000													21	302					0	0	0.667858	0	0
ADCY2	108	broad.mit.edu	37	5	7709400	7709400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:7709400G>A	ENST00000338316.4	+	10	1567	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	RP11-711G10.1_ENST00000514105.2_RNA|ADCY2_ENST00000537121.1_Missense_Mutation_p.R313H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	493					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.R493H(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCCTCGGTCCGCATGACCCGG	0.587000													5	104					0	0	0.184627	0	0
DDX49	54555	broad.mit.edu	37	19	19032540	19032540	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:19032540T>C	ENST00000247003.4	+	3	375	c.308T>C	c.(307-309)aTc>aCc	p.I103T	AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000438170.2_5'UTR	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	103	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.I103T(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			AAAGACTGCATCATCGTCGGT	0.652000													39	117					0	0	0.870114	0	0
ARSH	347527	broad.mit.edu	37	X	2933387	2933387	+	Silent	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:2933387G>A	ENST00000381130.2	+	4	717	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	239						integral to membrane	arylsulfatase activity|metal ion binding	p.E239E(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				TGAAAGAGGAGAAAGTAGCTT	0.388000													19	32					0	0	0.681144	0	0
DYTN	391475	broad.mit.edu	37	2	207558023	207558023	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:207558023G>A	ENST00000452335.2	-	9	972	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	286						plasma membrane	zinc ion binding	p.L286F(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTGAAGAGAAGTTTTGTATTC	0.483000													29	85					0	0	0.769981	0	0
BAGE2	85319	broad.mit.edu	37	21	11058353	11058353	+	RNA	SNP	T	T	C	rs79433933	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343000													17	156					0	0	0.592651	0	0
MYH7	4625	broad.mit.edu	37	14	23895200	23895200	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:23895200C>T	ENST00000355349.3	-	19	2297	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	712	Myosin head-like.		R -> L (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTAGAGGATGCGGTTGGGGAA	0.617000													4	125					0	0	0.150653	0	0
TBX15	6913	broad.mit.edu	37	1	119474252	119474252	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:119474252T>C	ENST00000369429.3	-	2	418	c.409A>G	c.(409-411)Aaa>Gaa	p.K137E	TBX15_ENST00000207157.3_Missense_Mutation_p.K31E			Q96SF7	TBX15_HUMAN	T-box 15	137						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K31E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTGCTTTGGTGATGATC	0.448000													5	86					0	0	0.184627	0	0
SIRPB1	10326	broad.mit.edu	37	20	1585397	1585397	+	Missense_Mutation	SNP	T	T	C	rs148754551	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:1585397T>C	ENST00000279477.7	-	3	806	c.742A>G	c.(742-744)Acc>Gcc	p.T248A	RP4-576H24.4_ENST00000564763.1_Intron|SIRPB1_ENST00000381603.3_Intron|SIRPB1_ENST00000568365.1_Missense_Mutation_p.T248A|SIRPB1_ENST00000381605.4_Intron	NM_001135844.2	NP_001129316.1	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	248					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.T248A(5)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						CCTCGGATGGTCTCAGACAAG	0.627000													4	65					0	0	0.217242	0	0
NUP188	23511	broad.mit.edu	37	9	131741553	131741553	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:131741553A>G	ENST00000372577.2	+	13	1237	c.1216A>G	c.(1216-1218)Aca>Gca	p.T406A		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	406					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.T406A(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TATAATTGATACAGCATGTGA	0.383000													11	235					0	0	0.411799	0	0
WDSUB1	151525	broad.mit.edu	37	2	160104993	160104993	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:160104993C>G	ENST00000409990.3	-	10	1419	c.1163G>C	c.(1162-1164)aGg>aCg	p.R388T	WDSUB1_ENST00000359774.4_Missense_Mutation_p.R388T|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R296T|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R388T|WDSUB1_ENST00000409124.1_Intron	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	388	SAM.					ubiquitin ligase complex	ubiquitin-protein ligase activity	p.R388T(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTCAATTTTCCTCAGCACTTT	0.378000													26	119					0	0	0.706142	0	0
BAGE2	85319	broad.mit.edu	37	21	11058340	11058340	+	RNA	SNP	A	A	C	rs28617310	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr21:11058340A>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGTAAAGGAGAGAAATCTC	0.363000													10	225					0	0	0.411799	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393551	145393551	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:145393551T>C	ENST00000511217.1	+	4	1038	c.986T>C	c.(985-987)aTc>aCc	p.I329T	SH3RF2_ENST00000359120.4_Missense_Mutation_p.I329T			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	329							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.I329T(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTGCTCATCAGCTCCAGC	0.562000													11	375					0	0	0.387290	0	0
LAIR2	3904	broad.mit.edu	37	19	55019211	55019211	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:55019211G>A	ENST00000301202.2	+	3	298	c.176G>A	c.(175-177)cGc>cAc	p.R59H	LAIR2_ENST00000351841.2_Missense_Mutation_p.R59H	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	59	Ig-like C2-type.					extracellular region	receptor activity	p.R59H(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CAAACATTCCGCCTGGAGAGG	0.537000													46	153					0	0	0.864702	0	0
CARD6	84674	broad.mit.edu	37	5	40852928	40852928	+	Silent	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:40852928G>A	ENST00000254691.5	+	3	1693	c.1494G>A	c.(1492-1494)cgG>cgA	p.R498R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	498					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGCTTCCCCGGCAAATCTCTG	0.438000													4	169					0	0	0.150653	0	0
CCL2	6347	broad.mit.edu	37	17	32583777	32583777	+	Silent	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:32583777C>T	ENST00000225831.4	+	3	296	c.231C>T	c.(229-231)gaC>gaT	p.D77D	CCL2_ENST00000580907.1_3'UTR	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	77					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity	p.D77D(2)		kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	TCTGTGCTGACCCCAAGCAGA	0.517000													30	67					0	0	0.750413	0	0
PTGS2	5743	broad.mit.edu	37	1	186646874	186646874	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:186646874C>T	ENST00000367468.5	-	5	682	c.546G>A	c.(544-546)atG>atA	p.M182I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	182					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	ATGCAAACATCATGTTTGAGC	0.448000													4	166					0	0	0.150653	0	0
POM121C	100101267	broad.mit.edu	37	7	75050948	75050948	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:75050948C>T	ENST00000453279.2	-	13	3451	c.2587G>A	c.(2587-2589)Gga>Aga	p.G863R	POM121C_ENST00000257665.5_Missense_Mutation_p.G1105R	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1105	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	p.G863R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGAAAGCTCCGGTGGTGGCG	0.652000													7	46					0	0	0.457914	0	0
TDRD10	126668	broad.mit.edu	37	1	154493861	154493861	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:154493861G>C	ENST00000368482.4	+	6	1113	c.275G>C	c.(274-276)gGt>gCt	p.G92A	TDRD10_ENST00000368480.3_Missense_Mutation_p.G92A|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	92	RRM.						nucleotide binding|RNA binding	p.G92A(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGCTGAATGGTAAACTCTTC	0.507000													10	422					0	0	0.335167	0	0
MTMR10	54893	broad.mit.edu	37	15	31233830	31233830	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr15:31233830G>A	ENST00000435680.1	-	16	2274	c.2177C>T	c.(2176-2178)aCc>aTc	p.T726I	MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000314404.8_Intron|FAN1_ENST00000362065.4_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	726							phosphatase activity	p.T726I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CGAGGTGTCGGTGTGGTGAGG	0.572000													6	20					0	0	1	0	0
OVCH1	341350	broad.mit.edu	37	12	29598221	29598221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr12:29598221C>G	ENST00000318184.5	-	23	2870	c.2871G>C	c.(2869-2871)ttG>ttC	p.L957F	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	957	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.L957F(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTAGGACTTTCAAGACAATAT	0.353000													25	149					0	0	1	0	0
EFCAB12	90288	broad.mit.edu	37	3	129140588	129140588	+	Silent	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr3:129140588C>T	ENST00000505956.1	-	2	270	c.108G>A	c.(106-108)ccG>ccA	p.P36P	EFCAB12_ENST00000326085.3_Silent_p.P36P	NM_207307.1	NP_997190.1			EF-hand calcium binding domain 12									p.P36P(1)									GGGCAATGACCGGTTCAGGAT	0.527000													11	88					0	0	1	0	0
MUC16	94025	broad.mit.edu	37	19	9047069	9047069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:9047069G>A	ENST00000397910.4	-	5	34765	c.34562C>T	c.(34561-34563)gCc>gTc	p.A11521V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11523	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A11521V(2)|p.A7154V(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGTGATGGCTACTGGGAG	0.507000													125	873					0	0	1	0	0
SEMA3G	56920	broad.mit.edu	37	3	52473930	52473930	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr3:52473930C>T	ENST00000231721.2	-	11	1327	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	443	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity	p.R443H(2)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGCCTCCACGCGGTCCACCAC	0.647000													12	32					0	0	1	0	0
ZNF536	9745	broad.mit.edu	37	19	30936168	30936168	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:30936168G>A	ENST00000355537.3	+	2	1846	c.1699G>A	c.(1699-1701)Gtg>Atg	p.V567M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.V567M(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGGGAGTACGTGTTAGTGGG	0.532000													8	102					0	0	1	0	0
SYNE2	23224	broad.mit.edu	37	14	64518664	64518664	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr14:64518664G>T	ENST00000358025.3	+	48	8263	c.8033G>T	c.(8032-8034)gGa>gTa	p.G2678V	SYNE2_ENST00000344113.4_Missense_Mutation_p.G2678V|SYNE2_ENST00000554584.1_Missense_Mutation_p.G2711V|SYNE2_ENST00000357395.3_5'UTR	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2678					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.G2678V(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAAGCATGGATTTTCTGTT	0.433000													90	223					7.79711e-59	8.26261e-59	1	1	0
SLC22A6	9356	broad.mit.edu	37	11	62751060	62751060	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr11:62751060G>T	ENST00000377871.3	-	3	843	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	SLC22A6_ENST00000360421.4_Missense_Mutation_p.L193I|SLC22A6_ENST00000458333.2_Missense_Mutation_p.L193I|SLC22A6_ENST00000421062.2_Missense_Mutation_p.L193I|SLC22A6_ENST00000537349.1_5'UTR	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	193					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.L193I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCGAGAGGAGCCGGAAGGCG	0.612000													11	7					5.50884e-06	5.66851e-06	1	1	0
TRPM1	4308	broad.mit.edu	37	15	31294527	31294527	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr15:31294527G>C	ENST00000542188.1	-	27	4740	c.4427C>G	c.(4426-4428)tCc>tGc	p.S1476C	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S1437C|TRPM1_ENST00000256552.6_Missense_Mutation_p.S1459C	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1437					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.S1437C(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAAGCTTCTGGACTTCATTGT	0.453000													61	172					0	0	1	0	0
FAT3	120114	broad.mit.edu	37	11	92085756	92085756	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr11:92085756C>T	ENST00000298047.6	+	1	495	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	FAT3_ENST00000409404.2_Missense_Mutation_p.P160S|FAT3_ENST00000525166.1_Missense_Mutation_p.P10S|FAT3_ENST00000541502.1_Missense_Mutation_p.P160S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	160	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P160S(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTGTTTTCACCCACAACATA	0.413000										TCGA Ovarian(4;0.039)			25	77					0	0	1	0	0
LRRC57	255252	broad.mit.edu	37	15	42840384	42840384	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr15:42840384T>C	ENST00000323443.2	-	2	510	c.143A>G	c.(142-144)aAc>aGc	p.N48S	LRRC57_ENST00000563454.1_Missense_Mutation_p.N48S|LRRC57_ENST00000397130.3_Missense_Mutation_p.N48S			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	48								p.N48S(2)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TTCGATCTTGTTGTTGGACAA	0.532000													16	192					0	0	1	0	0
TBC1D3P5	440419	broad.mit.edu	37	17	25753502	25753502	+	RNA	SNP	C	C	T	rs35094692	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr17:25753502C>T	ENST00000586223.1	+	0	1512					NR_033892.1																						CTCGGGCTCACCCCGTGCCTG	0.567000													5	93					0	0	1	0	0
TANC1	85461	broad.mit.edu	37	2	160082226	160082226	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr2:160082226C>T	ENST00000263635.6	+	24	4076	c.3839C>T	c.(3838-3840)tCc>tTc	p.S1280F	TANC1_ENST00000454300.1_Missense_Mutation_p.S1174F	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1280						cell junction|postsynaptic density|postsynaptic membrane	binding	p.S1280F(1)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ATGGCCACTTCCAAACCTGAT	0.458000													3	58					0	0	1	0	0
LRRC37A6P	387646	broad.mit.edu	37	10	27535600	27535600	+	RNA	SNP	T	T	C	rs640284	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr10:27535600T>C	ENST00000574842.1	+	0	255																											CACAGGTCAATTGCACATGGG	0.517000													9	318					0	0	1	0	0
SORL1	6653	broad.mit.edu	37	11	121495876	121495876	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr11:121495876C>T	ENST00000260197.7	+	46	6383	c.6254C>T	c.(6253-6255)tCc>tTc	p.S2085F	SORL1_ENST00000534286.1_Missense_Mutation_p.S995F|SORL1_ENST00000532694.1_Missense_Mutation_p.S931F|SORL1_ENST00000525532.1_Missense_Mutation_p.S1029F|SORL1_ENST00000527934.1_Missense_Mutation_p.S700F	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2085	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.S2085F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTAAAATTTCCAACCTGAAG	0.428000													8	253					0	0	1	0	0
DDX49	54555	broad.mit.edu	37	19	19032540	19032540	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:19032540T>C	ENST00000247003.4	+	3	375	c.308T>C	c.(307-309)aTc>aCc	p.I103T	DDX49_ENST00000438170.2_5'UTR|AC002985.3_ENST00000596918.1_Intron	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	103	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.I103T(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			AAAGACTGCATCATCGTCGGT	0.652000													14	39					0	0	1	0	0
KIF20A	10112	broad.mit.edu	37	5	137520631	137520631	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr5:137520631T>C	ENST00000394894.3	+	14	2045	c.1819T>C	c.(1819-1821)Tgc>Cgc	p.C607R	KIF20A_ENST00000508792.1_Missense_Mutation_p.C589R	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	607					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	p.C607R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGAACAGTGGTGCAGGTACTA	0.502000													55	391					0	0	1	0	0
ARSH	347527	broad.mit.edu	37	X	2933387	2933387	+	Silent	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chrX:2933387G>A	ENST00000381130.2	+	4	717	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	239						integral to membrane	arylsulfatase activity|metal ion binding	p.E239E(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				TGAAAGAGGAGAAAGTAGCTT	0.388000													28	36					0	0	1	0	0
SMCP	4184	broad.mit.edu	37	1	152856991	152856991	+	Silent	SNP	C	C	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:152856991C>A	ENST00000368765.3	+	2	243	c.93C>A	c.(91-93)ggC>ggA	p.G31G		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	31	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane		p.G31G(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTCAAAAGGCAATCAATGCT	0.507000													13	474					4.36969e-10	4.56247e-10	1	1	0
COASY	80347	broad.mit.edu	37	17	40717061	40717061	+	Missense_Mutation	SNP	A	A	G	rs145251799		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr17:40717061A>G	ENST00000393818.2	+	5	1754	c.1298A>G	c.(1297-1299)aAt>aGt	p.N433S	COASY_ENST00000421097.2_Missense_Mutation_p.N433S|COASY_ENST00000449624.1_Missense_Mutation_p.N138S|COASY_ENST00000590958.1_Missense_Mutation_p.N462S|COASY_ENST00000420359.1_Missense_Mutation_p.N433S	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	433	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity	p.N433S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GTGTTTGGGAATAAGGTAAAC	0.522000													5	68					0	0	1	0	0
DYTN	391475	broad.mit.edu	37	2	207558023	207558023	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr2:207558023G>A	ENST00000452335.2	-	9	972	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	286						plasma membrane	zinc ion binding	p.L286F(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTGAAGAGAAGTTTTGTATTC	0.483000													58	122					0	0	1	0	0
CCL2	6347	broad.mit.edu	37	17	32583777	32583777	+	Silent	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr17:32583777C>T	ENST00000225831.4	+	3	296	c.231C>T	c.(229-231)gaC>gaT	p.D77D	CCL2_ENST00000580907.1_3'UTR	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	77					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity	p.D77D(2)		kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	TCTGTGCTGACCCCAAGCAGA	0.517000													65	241					0	0	1	0	0
UBN1	29855	broad.mit.edu	37	16	4920909	4920909	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr16:4920909G>T	ENST00000396658.4	+	10	2198	c.1495G>T	c.(1495-1497)Gaa>Taa	p.E499*	UBN1_ENST00000262376.6_Nonsense_Mutation_p.E499*|UBN1_ENST00000590769.1_Nonsense_Mutation_p.E499*|UBN1_ENST00000545171.1_Nonsense_Mutation_p.E499*	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	499					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity	p.E499*(1)		NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GGAAGAAGATGAAGAAAAAGG	0.517000													5	150					0.000157383	0.000159632	1	1	0
EPB41L3	23136	broad.mit.edu	37	18	5416055	5416055	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr18:5416055T>C	ENST00000341928.2	-	13	2169	c.1829A>G	c.(1828-1830)aAc>aGc	p.N610S	EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Intron|EPB41L3_ENST00000542146.1_Intron|EPB41L3_ENST00000427684.2_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N610S	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	610	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.N610S(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTCAGAAAGGTTGGGGAAAGA	0.537000													8	273					0	0	1	0	0
WDR76	79968	broad.mit.edu	37	15	44158424	44158424	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr15:44158424G>A	ENST00000263795.6	+	13	1785	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	WDR76_ENST00000381246.2_Missense_Mutation_p.R508Q|WDR76_ENST00000478130.1_3'UTR	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	572										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GCCCATCCACGACGGGTAGAA	0.512000													7	269					0	0	1	0	0
TBX15	6913	broad.mit.edu	37	1	119474252	119474252	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:119474252T>C	ENST00000369429.3	-	2	418	c.409A>G	c.(409-411)Aaa>Gaa	p.K137E	TBX15_ENST00000207157.3_Missense_Mutation_p.K31E			Q96SF7	TBX15_HUMAN	T-box 15	137						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K31E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTGCTTTGGTGATGATC	0.448000													6	145					0	0	1	0	0
RNF10	9921	broad.mit.edu	37	12	121003284	121003284	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr12:121003284C>T	ENST00000325954.4	+	12	2298	c.1837C>T	c.(1837-1839)Cgc>Tgc	p.R613C	RNF10_ENST00000413266.2_Missense_Mutation_p.R618C	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	613					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R613C(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGAGGAACGCCGCCGAGAGCG	0.488000													7	114					0	0	1	0	0
ICK	22858	broad.mit.edu	37	6	52870089	52870089	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr6:52870089A>T	ENST00000356971.3	-	15	2246	c.1757T>A	c.(1756-1758)cTg>cAg	p.L586Q	ICK_ENST00000350082.5_Missense_Mutation_p.L586Q	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	586					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.L586Q(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CATGGCCTTCAGGGAGGAATA	0.502000													47	174					0	0	1	0	0
ADARB1	104	broad.mit.edu	37	21	46604861	46604861	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr21:46604861C>T	ENST00000539173.1	+	9	1975	c.1540C>T	c.(1540-1542)Cgt>Tgt	p.R514C	ADARB1_ENST00000389863.4_Missense_Mutation_p.R514C|ADARB1_ENST00000348831.4_Missense_Mutation_p.R474C|ADARB1_ENST00000437626.1_3'UTR|ADARB1_ENST00000360697.3_Missense_Mutation_p.R514C	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	514	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding	p.R514C(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ACACCCAAATCGTAAAGCAAG	0.453000													7	243					0	0	1	0	0
TM6SF2	53345	broad.mit.edu	37	19	19379455	19379455	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:19379455C>T	ENST00000389363.4	-	6	665	c.593G>A	c.(592-594)cGc>cAc	p.R198H	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	198						integral to membrane		p.R198H(2)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GGCGGTGCAGCGGGTTAGCGC	0.572000													7	42					0	0	1	0	0
EMP1	2012	broad.mit.edu	37	12	13366731	13366731	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr12:13366731T>C	ENST00000256951.5	+	4	491	c.292T>C	c.(292-294)Tca>Cca	p.S98P	EMP1_ENST00000544053.1_Missense_Mutation_p.S31P|EMP1_ENST00000542289.1_Intron|EMP1_ENST00000396301.3_Missense_Mutation_p.S98P|EMP1_ENST00000431267.2_Missense_Mutation_p.S31P|EMP1_ENST00000537612.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	98					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GTTCTTCCTCTCAGGGGCCAC	0.493000													7	358					0	0	1	0	0
WDSUB1	151525	broad.mit.edu	37	2	160104993	160104993	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr2:160104993C>G	ENST00000409990.3	-	10	1419	c.1163G>C	c.(1162-1164)aGg>aCg	p.R388T	WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R388T|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R296T|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R388T	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	388	SAM.					ubiquitin ligase complex	ubiquitin-protein ligase activity	p.R388T(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTCAATTTTCCTCAGCACTTT	0.378000													44	107					0	0	1	0	0
TMCO4	255104	broad.mit.edu	37	1	20009542	20009542	+	Silent	SNP	C	C	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:20009542C>A	ENST00000294543.6	-	16	2137	c.1896G>T	c.(1894-1896)ggG>ggT	p.G632G	TMCO4_ENST00000375122.2_Silent_p.G592G|TMCO4_ENST00000375127.1_Intron|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	632						integral to membrane		p.G632G(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GTCAGTCCAGCCCCGTGCTGG	0.642000													3	24					1	1	1	1	0
SERPINI2	5276	broad.mit.edu	37	3	167167112	167167112	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr3:167167112G>A	ENST00000476257.1	-	8	1341	c.1043C>T	c.(1042-1044)aCa>aTa	p.T348I	SERPINI2_ENST00000471111.1_Missense_Mutation_p.T348I|SERPINI2_ENST00000461846.1_Missense_Mutation_p.T348I|SERPINI2_ENST00000264677.4_Missense_Mutation_p.T348I			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	348					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T348I(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACCAGTTGATGTTGCAGCTTC	0.383000													10	41					0	0	1	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393551	145393551	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr5:145393551T>C	ENST00000511217.1	+	4	1038	c.986T>C	c.(985-987)aTc>aCc	p.I329T	SH3RF2_ENST00000359120.4_Missense_Mutation_p.I329T			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	329							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.I329T(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTGCTCATCAGCTCCAGC	0.562000													30	1077					0	0	1	0	0
EEF1B2	1933	broad.mit.edu	37	2	207025366	207025366	+	Silent	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr2:207025366G>A	ENST00000392222.2	+	2	510	c.135G>A	c.(133-135)ccG>ccA	p.P45P	EEF1B2_ENST00000392221.1_Silent_p.P45P|EEF1B2_ENST00000236957.5_Silent_p.P45P	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	45	GST C-terminal.					cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity	p.P45P(5)		breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						CCAGCCCACCGCCTGCCGACT	0.448000													4	62					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152192471	152192471	+	Missense_Mutation	SNP	C	C	T	rs146592977	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:152192471C>T	ENST00000368801.2	-	3	1709	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	545					keratinization		calcium ion binding|protein binding	p.R545H(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGTCGGCCACGGCTAGGGCT	0.587000													6	184					0	0	1	0	0
GPNMB	10457	broad.mit.edu	37	7	23313199	23313199	+	Missense_Mutation	SNP	A	A	G	rs144208310	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr7:23313199A>G	ENST00000258733.4	+	10	1784	c.1489A>G	c.(1489-1491)Ata>Gta	p.I497V	GPNMB_ENST00000539136.1_Missense_Mutation_p.I398V|GPNMB_ENST00000381990.2_Missense_Mutation_p.I509V|GPNMB_ENST00000453162.2_Missense_Mutation_p.I451V|GPNMB_ENST00000478451.1_3'UTR			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	509					negative regulation of cell proliferation	melanosome		p.I509V(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CTGCTTGGCCATATTTGTCAC	0.428000													5	167					0	0	1	0	0
SAMD9	54809	broad.mit.edu	37	7	92734750	92734750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr7:92734750G>A	ENST00000379958.2	-	3	930	c.661C>T	c.(661-663)Cga>Tga	p.R221*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	221						cytoplasm		p.R221*(2)|p.R221R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAGCAAATCGGAAAACCTCA	0.398000													24	285					0	0	1	0	0
IL4I1	259307	broad.mit.edu	37	19	50394693	50394693	+	Missense_Mutation	SNP	G	G	A	rs61730216	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:50394693G>A	ENST00000595948.1	-	8	1291	c.671C>T	c.(670-672)gCg>gTg	p.A224V	IL4I1_ENST00000391826.2_Missense_Mutation_p.A202V|IL4I1_ENST00000341114.3_Missense_Mutation_p.A224V	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	202						lysosome	L-amino-acid oxidase activity	p.A224V(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		CTTCTTCATCGCCTTTCTGCA	0.582000													3	55					0	0	1	0	0
HSPA9	3313	broad.mit.edu	37	5	137906812	137906812	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr5:137906812C>T	ENST00000297185.3	-	4	372	c.247G>A	c.(247-249)Ggt>Agt	p.G83S		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	83					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	p.G83S(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTCTGGCACCTTCGGCATTC	0.483000													4	34					0	0	1	0	0
DDIT4	54541	broad.mit.edu	37	10	74033978	74033978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr10:74033978C>T	ENST00000307365.3	+	2	205	c.4C>T	c.(4-6)Cct>Tct	p.P2S		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	2					apoptosis			p.P2S(2)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCTCACCATGCCTAGCCTTTG	0.647000													23	46					0	0	1	0	0
WDR7	23335	broad.mit.edu	37	18	54339839	54339839	+	Silent	SNP	G	G	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr18:54339839G>C	ENST00000254442.3	+	2	304	c.93G>C	c.(91-93)ggG>ggC	p.G31G	WDR7_ENST00000357574.3_Silent_p.G31G|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	31								p.G31G(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		CAGATGATGGGGCCACGATCG	0.443000													8	208					0	0	1	0	0
LAIR2	3904	broad.mit.edu	37	19	55019211	55019211	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:55019211G>A	ENST00000301202.2	+	3	298	c.176G>A	c.(175-177)cGc>cAc	p.R59H	LAIR2_ENST00000351841.2_Missense_Mutation_p.R59H	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	59	Ig-like C2-type.					extracellular region	receptor activity	p.R59H(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CAAACATTCCGCCTGGAGAGG	0.537000													20	58					0	0	1	0	0
TDRD10	126668	broad.mit.edu	37	1	154493861	154493861	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:154493861G>C	ENST00000368482.4	+	6	1113	c.275G>C	c.(274-276)gGt>gCt	p.G92A	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.G92A	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	92	RRM.						nucleotide binding|RNA binding	p.G92A(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGCTGAATGGTAAACTCTTC	0.507000													13	315					0	0	1	0	0
TTI1	9675	broad.mit.edu	37	20	36640637	36640637	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr20:36640637C>T	ENST00000373448.2	-	3	1820	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	TTI1_ENST00000373447.3_Missense_Mutation_p.E528K|TTI1_ENST00000449821.1_Missense_Mutation_p.E528K|TTI1_ENST00000487362.1_Intron	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	528							binding	p.E528K(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTAACCAGTTCATTAAGGATC	0.408000													9	49					0	0	1	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				30	88					0	0	1	0	0
STEAP1B	256227	broad.mit.edu	37	7	22532260	22532260	+	Missense_Mutation	SNP	A	A	G	rs62447564	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr7:22532260A>G	ENST00000404369.4	-	4	1101	c.686T>C	c.(685-687)aTa>aCa	p.I229T	STEAP1B_ENST00000406890.2_Missense_Mutation_p.I210T	NM_001164460.1	NP_001157932.1	Q6NZ63	STEAL_HUMAN	STEAP family member 1B	210						integral to membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			endometrium(1)|kidney(1)|lung(2)	4						CAGAGCCAGTATTGCCAGTCC	0.393000													6	197					0	0	1	0	0
TNFSF15	9966	broad.mit.edu	37	9	117568153	117568153	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr9:117568153A>C	ENST00000374045.4	-	1	253	c.140T>G	c.(139-141)cTt>cGt	p.L47R		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	47					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.L47R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GAGTCCTGCAAGGAAGGGGAG	0.632000													37	129					0	0	1	0	0
NAPSA	9476	broad.mit.edu	37	19	50864307	50864307	+	Silent	SNP	A	A	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:50864307A>G	ENST00000253719.2	-	5	767	c.559T>C	c.(559-561)Ttg>Ctg	p.L187L	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	187					proteolysis	extracellular region	aspartic-type endopeptidase activity	p.L187L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		CCGAGGCCCAATATCCCATCA	0.532000													5	149					0	0	1	0	0
SETD2	29072	broad.mit.edu	37	3	47162162	47162162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr3:47162162G>A	ENST00000409792.3	-	3	4006	c.3964C>T	c.(3964-3966)Cga>Tga	p.R1322*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R819*(2)|p.R1322*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCTTGAGTTCGATCATACACA	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma								80	171					0	0	1	0	0
NUCB1	4924	broad.mit.edu	37	19	49409050	49409050	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:49409050A>C	ENST00000405315.4	+	4	618	c.284A>C	c.(283-285)cAc>cCc	p.H95P	NUCB1_ENST00000263273.5_Missense_Mutation_p.H95P|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000407032.1_Missense_Mutation_p.H95P	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	95						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	p.H95P(2)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GTCAGCCACCACGTCCGCACC	0.622000													11	76					0	0	1	0	0
USP4	7375	broad.mit.edu	37	3	49331920	49331920	+	Silent	SNP	A	A	G	rs61761586		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr3:49331920A>G	ENST00000351842.4	-	13	1670	c.1662T>C	c.(1660-1662)taT>taC	p.Y554Y	USP4_ENST00000265560.4_Silent_p.Y601Y	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	601					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GTGGCTGCCCATATAGCGCTG	0.522000													5	200					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6710828	6710828	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:6710828G>A	ENST00000245907.6	-	13	1600	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	503					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.A503V(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGGCGTCCCGCCTTCAACAG	0.662000													5	38					0	0	1	0	0
MTMR10	54893	broad.mit.edu	37	15	31233830	31233830	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr15:31233830G>A	ENST00000435680.1	-	16	2274	c.2177C>T	c.(2176-2178)aCc>aTc	p.T726I	MTMR10_ENST00000314404.8_Intron|MTMR10_ENST00000425768.1_3'UTR|FAN1_ENST00000362065.4_3'UTR	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	726							phosphatase activity	p.T726I(2)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CGAGGTGTCGGTGTGGTGAGG	0.572000													4	29					0	0	0.150653	0	0
PDGFRB	5159	broad.mit.edu	37	5	149503898	149503898	+	Missense_Mutation	SNP	T	T	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr5:149503898T>A	ENST00000261799.4	-	14	2407	c.1938A>T	c.(1936-1938)caA>caT	p.Q646H		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	646	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.Q646H(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	ACATAAGGGCTTGCTTCTCAC	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								5	89					0	0	0.217242	0	0
SEMA3G	56920	broad.mit.edu	37	3	52473930	52473930	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr3:52473930C>T	ENST00000231721.2	-	11	1327	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	443	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity	p.R443H(2)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGCCTCCACGCGGTCCACCAC	0.647000													50	93					0	0	0.870114	0	0
ZNF536	9745	broad.mit.edu	37	19	30936168	30936168	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:30936168G>A	ENST00000355537.3	+	2	1846	c.1699G>A	c.(1699-1701)Gtg>Atg	p.V567M		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.V567M(2)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCGGGAGTACGTGTTAGTGGG	0.532000													19	187					0	0	0.608945	0	0
SYNE2	23224	broad.mit.edu	37	14	64518664	64518664	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr14:64518664G>T	ENST00000358025.3	+	48	8263	c.8033G>T	c.(8032-8034)gGa>gTa	p.G2678V	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.G2678V|SYNE2_ENST00000554584.1_Missense_Mutation_p.G2711V	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2678					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.G2678V(2)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAAGCATGGATTTTCTGTT	0.433000													97	231					1.53058e-52	1.67734e-52	0.870114	1	0
FAT3	120114	broad.mit.edu	37	11	92085756	92085756	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr11:92085756C>T	ENST00000298047.6	+	1	495	c.478C>T	c.(478-480)Ccc>Tcc	p.P160S	FAT3_ENST00000409404.2_Missense_Mutation_p.P160S|FAT3_ENST00000525166.1_Missense_Mutation_p.P10S|FAT3_ENST00000541502.1_Missense_Mutation_p.P160S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	160	Cadherin 2.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.P160S(4)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TTTGTTTTCACCCACAACATA	0.413000										TCGA Ovarian(4;0.039)			24	72					0	0	0.693898	0	0
ENPP6	133121	broad.mit.edu	37	4	185038032	185038032	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr4:185038032G>A	ENST00000296741.2	-	5	973	c.832C>T	c.(832-834)Ccg>Tcg	p.P278S		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	278					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		CCAGGGGCCGGCCAAAGGCTC	0.567000													4	166					0	0	0.150653	0	0
ADCY2	108	broad.mit.edu	37	5	7709400	7709400	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr5:7709400G>A	ENST00000338316.4	+	10	1567	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R313H|RP11-711G10.1_ENST00000514105.2_RNA	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	493					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.R493H(2)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GCCTCGGTCCGCATGACCCGG	0.587000													5	104					0	0	0.184627	0	0
TRPM1	4308	broad.mit.edu	37	15	31294527	31294527	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr15:31294527G>C	ENST00000542188.1	-	27	4740	c.4427C>G	c.(4426-4428)tCc>tGc	p.S1476C	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.S1437C|TRPM1_ENST00000256552.6_Missense_Mutation_p.S1459C	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1437					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.S1437C(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GAAGCTTCTGGACTTCATTGT	0.453000													53	162					0	0	0.870114	0	0
TM6SF2	53345	broad.mit.edu	37	19	19379455	19379455	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:19379455C>T	ENST00000389363.4	-	6	665	c.593G>A	c.(592-594)cGc>cAc	p.R198H	AC138430.4_ENST00000586064.2_RNA	NM_001001524.2	NP_001001524.2	Q9BZW4	TM6S2_HUMAN	transmembrane 6 superfamily member 2	198						integral to membrane		p.R198H(2)		breast(2)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14			Epithelial(12;0.0151)			GGCGGTGCAGCGGGTTAGCGC	0.572000													15	105					0	0	0.520397	0	0
PDGFRB	5159	broad.mit.edu	37	5	149503902	149503902	+	Missense_Mutation	SNP	T	T	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr5:149503902T>G	ENST00000261799.4	-	14	2403	c.1934A>C	c.(1933-1935)aAg>aCg	p.K645T		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	645	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.K645T(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGGGCTTGCTTCTCACTGCT	0.617000			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""								5	82					0	0	0.217242	0	0
KIF20A	10112	broad.mit.edu	37	5	137520631	137520631	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr5:137520631T>C	ENST00000394894.3	+	14	2045	c.1819T>C	c.(1819-1821)Tgc>Cgc	p.C607R	KIF20A_ENST00000508792.1_Missense_Mutation_p.C589R	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	607					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity	p.C607R(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGAACAGTGGTGCAGGTACTA	0.502000													33	268					0	0	0.804634	0	0
SLC22A6	9356	broad.mit.edu	37	11	62751060	62751060	+	Missense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr11:62751060G>T	ENST00000377871.3	-	3	843	c.577C>A	c.(577-579)Ctc>Atc	p.L193I	SLC22A6_ENST00000421062.2_Missense_Mutation_p.L193I|SLC22A6_ENST00000537349.1_5'UTR|SLC22A6_ENST00000360421.4_Missense_Mutation_p.L193I|SLC22A6_ENST00000458333.2_Missense_Mutation_p.L193I	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	193					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.L193I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCCGAGAGGAGCCGGAAGGCG	0.612000													7	14					0.00307968	0.00319967	0.278610	1	0
ARSH	347527	broad.mit.edu	37	X	2933387	2933387	+	Silent	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chrX:2933387G>A	ENST00000381130.2	+	4	717	c.717G>A	c.(715-717)gaG>gaA	p.E239E		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	239						integral to membrane	arylsulfatase activity|metal ion binding	p.E239E(2)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				TGAAAGAGGAGAAAGTAGCTT	0.388000													19	32					0	0	0.681144	0	0
OR7E91P	79315	broad.mit.edu	37	2	71256878	71256878	+	RNA	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr2:71256878C>T	ENST00000434990.1	-	0	61																											GGTGTGGTGGCGTCAGTGACG	0.547000													3	19					0	0	0.150653	0	0
RP11-24M17.5	0	broad.mit.edu	37	15	76074431	76074431	+	RNA	SNP	C	C	T	rs149323153	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr15:76074431C>T	ENST00000395215.3	+	0	610																		p.S190L(2)									CTCCAGTCCTCGAGCTGCAGA	0.547000													7	47					0	0	0.307466	0	0
C3	718	broad.mit.edu	37	19	6710828	6710828	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:6710828G>A	ENST00000245907.6	-	13	1600	c.1508C>T	c.(1507-1509)gCg>gTg	p.A503V		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	503					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.A503V(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTGGCGTCCCGCCTTCAACAG	0.662000													7	104					0	0	0.248553	0	0
ITLN2	142683	broad.mit.edu	37	1	160920490	160920490	+	Nonsense_Mutation	SNP	G	G	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:160920490G>T	ENST00000368029.3	-	5	510	c.453C>A	c.(451-453)taC>taA	p.Y151*	ITLN2_ENST00000494442.1_5'UTR	NM_080878.2	NP_543154.1	Q8WWU7	ITLN2_HUMAN	intelectin 2	151	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGATGTCGTAGTAGCCAGGGT	0.597000													6	145					0.0381472	0.0386301	0.278610	1	0
DYTN	391475	broad.mit.edu	37	2	207558023	207558023	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr2:207558023G>A	ENST00000452335.2	-	9	972	c.856C>T	c.(856-858)Ctt>Ttt	p.L286F		NM_001093730.1	NP_001087199.1	A2CJ06	DYTN_HUMAN	dystrotelin	286						plasma membrane	zinc ion binding	p.L286F(4)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTGAAGAGAAGTTTTGTATTC	0.483000													29	85					0	0	0.769981	0	0
TP53	7157	broad.mit.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552000		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)			5	102					0	0	0.184627	0	0
DDX49	54555	broad.mit.edu	37	19	19032540	19032540	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:19032540T>C	ENST00000247003.4	+	3	375	c.308T>C	c.(307-309)aTc>aCc	p.I103T	AC002985.3_ENST00000596918.1_Intron|DDX49_ENST00000438170.2_5'UTR	NM_019070.4	NP_061943.2	Q9Y6V7	DDX49_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 49	103	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding	p.I103T(2)		breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			AAAGACTGCATCATCGTCGGT	0.652000													39	117					0	0	0.870114	0	0
MUC16	94025	broad.mit.edu	37	19	9047069	9047069	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:9047069G>A	ENST00000397910.4	-	5	34765	c.34562C>T	c.(34561-34563)gCc>gTc	p.A11521V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11523	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A11521V(2)|p.A7154V(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						ACTGGTGATGGCTACTGGGAG	0.507000													17	97					0	0	0.539581	0	0
MYH7	4625	broad.mit.edu	37	14	23895200	23895200	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr14:23895200C>T	ENST00000355349.3	-	19	2297	c.2135G>A	c.(2134-2136)cGc>cAc	p.R712H		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	712	Myosin head-like.		R -> L (in CMH1).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTAGAGGATGCGGTTGGGGAA	0.617000													4	125					0	0	0.150653	0	0
TBX15	6913	broad.mit.edu	37	1	119474252	119474252	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:119474252T>C	ENST00000369429.3	-	2	418	c.409A>G	c.(409-411)Aaa>Gaa	p.K137E	TBX15_ENST00000207157.3_Missense_Mutation_p.K31E			Q96SF7	TBX15_HUMAN	T-box 15	137						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.K31E(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCCTGCTTTGGTGATGATC	0.448000													5	86					0	0	0.184627	0	0
SMCP	4184	broad.mit.edu	37	1	152856991	152856991	+	Silent	SNP	C	C	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:152856991C>A	ENST00000368765.3	+	2	243	c.93C>A	c.(91-93)ggC>ggA	p.G31G		NM_030663.2	NP_109588.2	P49901	MCSP_HUMAN	sperm mitochondria-associated cysteine-rich protein	31	7 X 7 (OR 8) AA approximate repeats.				penetration of zona pellucida|sperm motility	mitochondrial membrane		p.G31G(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGTCAAAAGGCAATCAATGCT	0.507000													5	242					0.0215528	0.0221054	0.217242	1	0
HSPA2	3306	broad.mit.edu	37	14	65009188	65009188	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr14:65009188G>A	ENST00000247207.6	+	1	2003	c.1621G>A	c.(1621-1623)Gcc>Acc	p.A541T	HSPA2_ENST00000394709.1_Missense_Mutation_p.A541T	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	541					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCGAGTCGCGGCCAAAAACGC	0.537000													4	191					0	0	0.150653	0	0
DDIT4	54541	broad.mit.edu	37	10	74033978	74033978	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr10:74033978C>T	ENST00000307365.3	+	2	205	c.4C>T	c.(4-6)Cct>Tct	p.P2S		NM_019058.2	NP_061931.1	Q9NX09	DDIT4_HUMAN	DNA-damage-inducible transcript 4	2					apoptosis			p.P2S(2)		cervix(1)|endometrium(2)|lung(5)|pancreas(1)|prostate(2)|urinary_tract(1)	12						CCTCACCATGCCTAGCCTTTG	0.647000													48	108					0	0	0.870114	0	0
PATZ1	23598	broad.mit.edu	37	22	31741165	31741165	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr22:31741165A>T	ENST00000266269.5	-	1	1053	c.424T>A	c.(424-426)Ttc>Atc	p.F142I	PATZ1_ENST00000405309.3_Missense_Mutation_p.F142I|PATZ1_ENST00000351933.4_Missense_Mutation_p.F142I|PATZ1_ENST00000215919.3_Missense_Mutation_p.F142I	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	142					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F142I(2)	EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						ATCAGCAGGAACTTGGCGGCC	0.542000													9	408					0	0	0.387290	0	0
KRTAP5-4	387267	broad.mit.edu	37	11	1643246	1643246	+	Silent	SNP	A	A	G	rs142004120	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr11:1643246A>G	ENST00000399682.1	-	1	122	c.78T>C	c.(76-78)tcT>tcC	p.S26S		NM_001012709.1	NP_001012727.1	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	26						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ccccacagccagagccacagc	0.682000													15	56					0	0	0.520397	0	0
ICK	22858	broad.mit.edu	37	6	52870089	52870089	+	Missense_Mutation	SNP	A	A	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr6:52870089A>T	ENST00000356971.3	-	15	2246	c.1757T>A	c.(1756-1758)cTg>cAg	p.L586Q	ICK_ENST00000350082.5_Missense_Mutation_p.L586Q	NM_016513.4	NP_057597.2	Q9UPZ9	ICK_HUMAN	intestinal cell (MAK-like) kinase	586					intracellular protein kinase cascade|multicellular organismal development	cytosol|nucleus	ATP binding|cyclin-dependent protein kinase activity|magnesium ion binding	p.L586Q(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(3)|stomach(1)	31	Lung NSC(77;0.103)					CATGGCCTTCAGGGAGGAATA	0.502000													22	84					0	0	0.608945	0	0
NUP188	23511	broad.mit.edu	37	9	131741553	131741553	+	Missense_Mutation	SNP	A	A	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr9:131741553A>G	ENST00000372577.2	+	13	1237	c.1216A>G	c.(1216-1218)Aca>Gca	p.T406A		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	406					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.T406A(1)		breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TATAATTGATACAGCATGTGA	0.383000													11	235					0	0	0.411799	0	0
CASQ1	844	broad.mit.edu	37	1	160167365	160167365	+	Silent	SNP	C	C	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:160167365C>A	ENST00000368079.3	+	7	1046	c.771C>A	c.(769-771)acC>acA	p.T257T	CASQ1_ENST00000368078.3_Silent_p.T263T	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	263						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTAGATCAACCCTGAGGAAAC	0.562000													4	135					0.00024832	0.000264875	0.150653	1	0
WDSUB1	151525	broad.mit.edu	37	2	160104993	160104993	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr2:160104993C>G	ENST00000409990.3	-	10	1419	c.1163G>C	c.(1162-1164)aGg>aCg	p.R388T	WDSUB1_ENST00000409124.1_Intron|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R388T|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R296T|WDSUB1_ENST00000392796.3_Missense_Mutation_p.R388T	NM_001128213.1	NP_001121685.1	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	388	SAM.					ubiquitin ligase complex	ubiquitin-protein ligase activity	p.R388T(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TTCAATTTTCCTCAGCACTTT	0.378000													26	119					0	0	0.706142	0	0
SERPINI2	5276	broad.mit.edu	37	3	167167112	167167112	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr3:167167112G>A	ENST00000476257.1	-	8	1341	c.1043C>T	c.(1042-1044)aCa>aTa	p.T348I	SERPINI2_ENST00000264677.4_Missense_Mutation_p.T348I|SERPINI2_ENST00000461846.1_Missense_Mutation_p.T348I|SERPINI2_ENST00000471111.1_Missense_Mutation_p.T348I			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	348					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.T348I(2)		NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ACCAGTTGATGTTGCAGCTTC	0.383000													14	69					0	0	0.479597	0	0
SH3RF2	153769	broad.mit.edu	37	5	145393551	145393551	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr5:145393551T>C	ENST00000511217.1	+	4	1038	c.986T>C	c.(985-987)aTc>aCc	p.I329T	SH3RF2_ENST00000359120.4_Missense_Mutation_p.I329T			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	329							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.I329T(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTGCTCATCAGCTCCAGC	0.562000													11	375					0	0	0.387290	0	0
CCL2	6347	broad.mit.edu	37	17	32583777	32583777	+	Silent	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr17:32583777C>T	ENST00000225831.4	+	3	296	c.231C>T	c.(229-231)gaC>gaT	p.D77D	CCL2_ENST00000580907.1_3'UTR	NM_002982.3	NP_002973.1	P13500	CCL2_HUMAN	chemokine (C-C motif) ligand 2	77					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity	p.D77D(2)		kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	TCTGTGCTGACCCCAAGCAGA	0.517000													30	67					0	0	0.750413	0	0
LAIR2	3904	broad.mit.edu	37	19	55019211	55019211	+	Missense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:55019211G>A	ENST00000301202.2	+	3	298	c.176G>A	c.(175-177)cGc>cAc	p.R59H	LAIR2_ENST00000351841.2_Missense_Mutation_p.R59H	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	59	Ig-like C2-type.					extracellular region	receptor activity	p.R59H(2)		central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		CAAACATTCCGCCTGGAGAGG	0.537000													46	153					0	0	0.864702	0	0
HIST1H2BK	85236	broad.mit.edu	37	6	27114410	27114410	+	Silent	SNP	G	G	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr6:27114410G>C	ENST00000396891.4	-	1	209	c.168C>G	c.(166-168)tcC>tcG	p.S56S	HIST1H2BK_ENST00000356950.1_Silent_p.S56S	NM_080593.2	NP_542160.1	O60814	H2B1K_HUMAN	histone cluster 1, H2bk	56					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	p.S56S(2)		breast(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TGGCCTTAGAGGAGATGCCGG	0.577000													9	506					0	0	0.387290	0	0
SAMD9	54809	broad.mit.edu	37	7	92734750	92734750	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr7:92734750G>A	ENST00000379958.2	-	3	930	c.661C>T	c.(661-663)Cga>Tga	p.R221*		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	221						cytoplasm		p.R221*(2)|p.R221R(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GAAGCAAATCGGAAAACCTCA	0.398000													23	258					0	0	0.654019	0	0
CARD6	84674	broad.mit.edu	37	5	40852928	40852928	+	Silent	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr5:40852928G>A	ENST00000254691.5	+	3	1693	c.1494G>A	c.(1492-1494)cgG>cgA	p.R498R	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	498					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TGCTTCCCCGGCAAATCTCTG	0.438000													4	169					0	0	0.150653	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													3	30					0	0	0.150653	0	0
PTGS2	5743	broad.mit.edu	37	1	186646874	186646874	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:186646874C>T	ENST00000367468.5	-	5	682	c.546G>A	c.(544-546)atG>atA	p.M182I	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	182					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	ATGCAAACATCATGTTTGAGC	0.448000													4	166					0	0	0.150653	0	0
HSPA9	3313	broad.mit.edu	37	5	137906812	137906812	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr5:137906812C>T	ENST00000297185.3	-	4	372	c.247G>A	c.(247-249)Ggt>Agt	p.G83S		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	83					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding	p.G83S(2)		breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTCTGGCACCTTCGGCATTC	0.483000													9	88					0	0	0.307466	0	0
SORL1	6653	broad.mit.edu	37	11	121495876	121495876	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr11:121495876C>T	ENST00000260197.7	+	46	6383	c.6254C>T	c.(6253-6255)tCc>tTc	p.S2085F	SORL1_ENST00000534286.1_Missense_Mutation_p.S995F|SORL1_ENST00000532694.1_Missense_Mutation_p.S931F|SORL1_ENST00000525532.1_Missense_Mutation_p.S1029F|SORL1_ENST00000527934.1_Missense_Mutation_p.S700F	NM_003105.5	NP_003096.1	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	2085	Fibronectin type-III 6.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity	p.S2085F(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TTTAAAATTTCCAACCTGAAG	0.428000													7	250					0	0	0.335167	0	0
LRRC57	255252	broad.mit.edu	37	15	42840384	42840384	+	Missense_Mutation	SNP	T	T	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr15:42840384T>C	ENST00000323443.2	-	2	510	c.143A>G	c.(142-144)aAc>aGc	p.N48S	LRRC57_ENST00000563454.1_Missense_Mutation_p.N48S|LRRC57_ENST00000397130.3_Missense_Mutation_p.N48S			Q8N9N7	LRC57_HUMAN	leucine rich repeat containing 57	48								p.N48S(2)		breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		TTCGATCTTGTTGTTGGACAA	0.532000													21	302					0	0	0.667858	0	0
POM121C	100101267	broad.mit.edu	37	7	75050948	75050948	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr7:75050948C>T	ENST00000453279.2	-	13	3451	c.2587G>A	c.(2587-2589)Gga>Aga	p.G863R	POM121C_ENST00000257665.5_Missense_Mutation_p.G1105R	NM_001099415.1	NP_001092885.1	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1105	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding	p.G863R(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CTGAAAGCTCCGGTGGTGGCG	0.652000													7	46					0	0	0.457914	0	0
RRN3P2	653390	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	102					0	0	0.184627	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135770096	135770096	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chrX:135770096G>C	ENST00000250617.6	-	11	2445	c.1240C>G	c.(1240-1242)Ctc>Gtc	p.L414V	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.L260V|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.L260V|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.L287V	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	414	DH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					CCTACCATGAGAGTTTTGAAT	0.353000													4	127					0	0	0.184627	0	0
TDRD10	126668	broad.mit.edu	37	1	154493861	154493861	+	Missense_Mutation	SNP	G	G	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:154493861G>C	ENST00000368482.4	+	6	1113	c.275G>C	c.(274-276)gGt>gCt	p.G92A	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.G92A	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	92	RRM.						nucleotide binding|RNA binding	p.G92A(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAGCTGAATGGTAAACTCTTC	0.507000													10	422					0	0	0.335167	0	0
OVCH1	341350	broad.mit.edu	37	12	29598221	29598221	+	Missense_Mutation	SNP	C	C	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr12:29598221C>G	ENST00000318184.5	-	23	2870	c.2871G>C	c.(2869-2871)ttG>ttC	p.L957F	OVCH1-AS1_ENST00000549411.1_Intron|OVCH1-AS1_ENST00000551108.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	957	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.L957F(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTAGGACTTTCAAGACAATAT	0.353000													8	98					0	0	0.335167	0	0
TTI1	9675	broad.mit.edu	37	20	36640637	36640637	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr20:36640637C>T	ENST00000373448.2	-	3	1820	c.1582G>A	c.(1582-1584)Gaa>Aaa	p.E528K	TTI1_ENST00000449821.1_Missense_Mutation_p.E528K|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Missense_Mutation_p.E528K	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	528							binding	p.E528K(2)		breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTAACCAGTTCATTAAGGATC	0.408000													22	95					0	0	0.654019	0	0
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368000	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				33	115					0	0	0.779181	0	0
ZNF876P	642280	broad.mit.edu	37	4	206531	206531	+	RNA	SNP	C	C	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr4:206531C>G	ENST00000356347.3	+	0	133					NR_027481.1																						TTGGATGATTCGTAGCTAAGA	0.632000													3	37					0	0	0.115264	0	0
TNFSF15	9966	broad.mit.edu	37	9	117568153	117568153	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr9:117568153A>C	ENST00000374045.4	-	1	253	c.140T>G	c.(139-141)cTt>cGt	p.L47R		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	47					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding	p.L47R(2)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						GAGTCCTGCAAGGAAGGGGAG	0.632000													35	127					0	0	0.796494	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37188577	37188577	+	RNA	SNP	T	T	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr17:37188577T>G	ENST00000425901.2	+	0	2419					NR_033753.2																						ACATATGTGATCTCTGTACCT	0.517000													4	217					0	0	0.248553	0	0
SETD2	29072	broad.mit.edu	37	3	47162162	47162162	+	Nonsense_Mutation	SNP	G	G	A			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr3:47162162G>A	ENST00000409792.3	-	3	4006	c.3964C>T	c.(3964-3966)Cga>Tga	p.R1322*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R819*(2)|p.R1322*(2)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCTTGAGTTCGATCATACACA	0.463000			"""N, F, S, Mis"""		clear cell renal carcinoma								33	102					0	0	0.769981	0	0
NUCB1	4924	broad.mit.edu	37	19	49409050	49409050	+	Missense_Mutation	SNP	A	A	C			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:49409050A>C	ENST00000405315.4	+	4	618	c.284A>C	c.(283-285)cAc>cCc	p.H95P	NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Missense_Mutation_p.H95P|NUCB1_ENST00000407032.1_Missense_Mutation_p.H95P	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	95						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding	p.H95P(2)		cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GTCAGCCACCACGTCCGCACC	0.622000													7	115					0	0	0.278610	0	0
CHRNA4	1137	broad.mit.edu	37	20	61981765	61981765	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr20:61981765C>T	ENST00000370263.4	-	5	1219	c.998G>A	c.(997-999)cGc>cAc	p.R333H	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	333					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.R333H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCGTGGCGAGCGGTGGTGCAC	0.612000													4	153					0	0	0.217242	0	0
DAPK1	1612	broad.mit.edu	37	9	90254339	90254339	+	Missense_Mutation	SNP	C	C	T			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr9:90254339C>T	ENST00000469640.2	+	5	869	c.494C>T	c.(493-495)gCc>gTc	p.A165V	DAPK1_ENST00000358077.5_Missense_Mutation_p.A165V|DAPK1_ENST00000491893.1_Missense_Mutation_p.A165V|DAPK1_ENST00000408954.3_Missense_Mutation_p.A165V|DAPK1_ENST00000472284.1_Missense_Mutation_p.A165V			P53355	DAPK1_HUMAN	death-associated protein kinase 1	165	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TTTGGGTTGGCCCATAAAATT	0.363000									Chronic Lymphocytic Leukemia, Familial Clustering of				4	197					0	0	0.150653	0	0
IGSF21	84966	broad.mit.edu	37	1	18554419	18554420	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:18554419_18554420insC	ENST00000251296.1	+	2	481_482	c.98_99insC	c.(97-99)cccfs	p.P33fs		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	33	Ig-like 1.					extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		ATTGAGCCTCTCCCCCCTGTGG	0.574													8	395	---	---	---	---					
ARID1A	8289	broad.mit.edu	37	1	27105930	27105931	+	Frame_Shift_Ins	INS	-	-	G	rs140055856		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:27105930_27105931insG	ENST00000324856.7	+	20	5912_5913	c.5541_5542insG	c.(5539-5544)ggggggfs	p.GG1847fs	ARID1A_ENST00000540690.1_Frame_Shift_Ins_p.GG175fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.GG1464fs|ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.GG1630fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1847					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.G1848fs*6(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCGGATTGGTGGGGGGGACAC	0.579			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								9	292	---	---	---	---					
PHACTR4	65979	broad.mit.edu	37	1	28800272	28800273	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:28800272_28800273insC	ENST00000373839.3	+	7	1291_1292	c.1030_1031insC	c.(1030-1032)cccfs	p.P344fs	PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	344	Pro-rich.						actin binding|protein phosphatase inhibitor activity	p.P356fs*33(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTCTCCGTCCCCCCCACTG	0.515													11	582	---	---	---	---					
AGO1	26523	broad.mit.edu	37	1	36354044	36354045	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:36354044_36354045insC	ENST00000373204.4	+	2	255_256	c.42_43insC	c.(40-45)ctccccfs	p.LP14fs	AGO1_ENST00000373206.1_5'UTR	NM_012199.2	NP_036331.1			argonaute RISC catalytic component 1																		GCGCTTACCTGCCCCCCCTGCA	0.569													9	172	---	---	---	---					
PIK3R3	8503	broad.mit.edu	37	1	46546323	46546324	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:46546323_46546324insC	ENST00000262741.5	-	2	894_895	c.205_206insG	c.(205-207)tatfs	p.Y69fs	PIK3R3_ENST00000540385.1_Frame_Shift_Ins_p.Y115fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000340332.6_Intron|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.Y69fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.Y69fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	69	SH2 1.				insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCTTGAAATATCCCCCCAGTAC	0.381													11	1144	---	---	---	---					
CYP4Z2P	163720	broad.mit.edu	37	1	47325313	47325315	+	RNA	DEL	GTT	GTT	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:47325313_47325315delGTT	ENST00000505841.1	-	0	1204					NR_002788.2																						AAAAAAAAAAGTTGTTTTAAGAC	0.409													7	210	---	---	---	---					
BEND5	79656	broad.mit.edu	37	1	49201966	49201967	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:49201966_49201967insT	ENST00000371833.3	-	5	1138_1139	c.1052_1053insA	c.(1051-1053)aaafs	p.K351fs	BEND5_ENST00000476096.1_Intron|AGBL4_ENST00000371838.1_Intron|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	351	BEN.									large_intestine(5)|lung(2)|skin(1)	8						CTGCATCTTTCTTTTTTTTTGT	0.460													11	694	---	---	---	---					
FAM151A	338094	broad.mit.edu	37	1	55081756	55081757	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:55081756_55081757insG	ENST00000302250.2	-	3	511_512	c.351_352insC	c.(349-354)ccctatfs	p.Y118fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Ins_p.Y118fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	118						integral to membrane		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTGTAGATAGTGGGGGGGTGTG	0.594													13	249	---	---	---	---					
FGGY	55277	broad.mit.edu	37	1	59812016	59812017	+	Frame_Shift_Ins	INS	-	-	G	rs145440779	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:59812016_59812017insG	ENST00000371218.4	+	4	595_596	c.411_412insG	c.(409-414)gtggggfs	p.VG137fs	FGGY_ENST00000371212.1_Intron|FGGY_ENST00000303721.7_Frame_Shift_Ins_p.VG137fs|FGGY_ENST00000474476.1_3'UTR	NM_001113411.1	NP_001106882.1	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	137					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TCCAGTACGTCGGGGGGGTGAT	0.500													12	355	---	---	---	---					
CACHD1	57685	broad.mit.edu	37	1	65157116	65157117	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:65157116_65157117insC	ENST00000371073.2	+	27	3697_3698	c.3697_3698insC	c.(3697-3699)cccfs	p.P1233fs	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Frame_Shift_Ins_p.P1182fs			Q5VU97	CAHD1_HUMAN	cache domain containing 1	1233					calcium ion transport	integral to membrane		p.Q1185fs*23(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AGACCTGGATACCCCCCCTCAG	0.554													17	289	---	---	---	---					
SRSF11	9295	broad.mit.edu	37	1	70687376	70687377	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:70687376_70687377insG	ENST00000370950.3	+	2	139_140	c.57_58insG	c.(55-60)ccgtggfs	p.W20fs	SRSF11_ENST00000454435.2_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000370951.1_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000436161.2_Frame_Shift_Ins_p.W20fs|SRSF11_ENST00000405432.1_Frame_Shift_Ins_p.W20fs			Q05519	SRS11_HUMAN	serine/arginine-rich splicing factor 11	20	Poly-Gly.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	nucleotide binding|protein binding|RNA binding	p.P19P(1)		large_intestine(3)|ovary(2)|skin(1)	6						GCGGCGGGCCcggtggcggagg	0.649													17	39	---	---	---	---					
GBP7	388646	broad.mit.edu	37	1	89613321	89613322	+	Frame_Shift_Ins	INS	-	-	C	rs138127555		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:89613321_89613322insC	ENST00000294671.2	-	8	1431_1432	c.1293_1294insG	c.(1291-1296)ggacaafs	p.Q432fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	432						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TAGATATTGTGCCCCCCCGGAA	0.436													7	185	---	---	---	---					
EPHX4	253152	broad.mit.edu	37	1	92511121	92511122	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:92511121_92511122insG	ENST00000370383.4	+	4	606_607	c.508_509insG	c.(508-510)gggfs	p.G170fs		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	170						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGCCATGACTGGGGGGGCATG	0.386													31	466	---	---	---	---					
FAM212B	55924	broad.mit.edu	37	1	112269924	112269925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:112269924_112269925insC	ENST00000357260.5	-	2	740_741	c.559_560insG	c.(559-561)acgfs	p.T187fs	FAM212B_ENST00000444059.2_Frame_Shift_Ins_p.T172fs|FAM212B_ENST00000534365.1_Intron	NM_019099.4	NP_061972.1	Q9NTI7	CA183_HUMAN	family with sequence similarity 212, member B	187										cervix(1)|endometrium(1)	2						GGGTTCACGTGCCCCCCCAGTC	0.579													9	238	---	---	---	---					
OLFML3	56944	broad.mit.edu	37	1	114523958	114523959	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:114523958_114523959insC	ENST00000369551.1	+	4	1016_1017	c.728_729insC	c.(727-729)accfs	p.T243fs	OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000393300.2_Frame_Shift_Ins_p.T243fs|OLFML3_ENST00000320334.4_Frame_Shift_Ins_p.T263fs			Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3	263	Olfactomedin-like.				multicellular organismal development	extracellular region				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGGGCTGATCCCCCCCTACG	0.559													7	271	---	---	---	---					
PIAS3	10401	broad.mit.edu	37	1	145584022	145584023	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:145584022_145584023insC	ENST00000393045.2	+	10	1343_1344	c.1253_1254insC	c.(1252-1254)tccfs	p.S418fs	PIAS3_ENST00000369298.1_Frame_Shift_Ins_p.S383fs	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	418					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAGGTTTGCCCCCCGCCAG	0.500													7	560	---	---	---	---					
ZNF687	57592	broad.mit.edu	37	1	151261078	151261079	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:151261078_151261079insC	ENST00000368879.2	+	3	2288_2289	c.2190_2191insC	c.(2188-2193)cgccccfs	p.RP730fs		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding	p.H733fs*30(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATAAGAATCGACCCCCCCATGT	0.579													8	100	---	---	---	---					
RFX5	5993	broad.mit.edu	37	1	151318740	151318741	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:151318740_151318741insG	ENST00000290524.4	-	3	234_235	c.56_57insC	c.(55-57)cggfs	p.R19fs	RFX5_ENST00000452671.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000452513.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000368870.2_Frame_Shift_Ins_p.R19fs|RFX5_ENST00000478564.1_5'UTR	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	19						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CAGCACCACCTGGGGGGGCCCT	0.554													11	266	---	---	---	---					
FLG2	388698	broad.mit.edu	37	1	152324558	152324559	+	Frame_Shift_Del	DEL	TG	TG	-	rs140875805	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:152324558_152324559delTG	ENST00000388718.5	-	3	5775_5776	c.5703_5704delCA	c.(5701-5706)cagcfs	p.HS1901fs	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1901							calcium ion binding|structural molecule activity	p.H1901fs*30(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGCTTGGCTGTGTGTGTGTC	0.515													14	1287	---	---	---	---					
KPRP	448834	broad.mit.edu	37	1	152732677	152732678	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:152732677_152732678insC	ENST00000368773.1	+	2	671_672	c.613_614insC	c.(613-615)cccfs	p.P205fs	KPRP_ENST00000606109.1_Frame_Shift_Ins_p.P205fs	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	205	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAACAACTACACCCCCCAGTTC	0.574													8	565	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158576486	158576487	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:158576486_158576487insG	ENST00000361284.1	+	1	258_259	c.258_259insG	c.(256-261)gcggggfs	p.AG86fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					CTGGCCTGGCTGGGGGGGACCA	0.554													19	1189	---	---	---	---					
OR10Z1	128368	broad.mit.edu	37	1	158577072	158577073	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:158577072_158577073insC	ENST00000361284.1	+	1	844_845	c.844_845insC	c.(844-846)cccfs	p.P282fs		NM_001004478.1	NP_001004478.1	Q8NGY1	O10Z1_HUMAN	olfactory receptor, family 10, subfamily Z, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TACTGTAGTGACCCCCCTCCTT	0.460													11	1600	---	---	---	---					
IGSF9	57549	broad.mit.edu	37	1	159904586	159904587	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:159904586_159904587insG	ENST00000368094.1	-	7	896_897	c.699_700insC	c.(697-702)ccagaafs	p.E234fs	IGSF9_ENST00000361509.3_Frame_Shift_Ins_p.E234fs	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	234	Ig-like 3.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGCTGTTCTTGGGGGGCACCA	0.569													8	297	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176563963	176563964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:176563963_176563964insG	ENST00000367662.3	+	3	2387_2388	c.1223_1224insG	c.(1222-1224)cggfs	p.R408fs	PAPPA2_ENST00000367661.3_Frame_Shift_Ins_p.R408fs	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	408					cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding	p.L408fs*49(2)|p.L408L(2)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TCTTTGCTCCTGGGGGGAGACA	0.574													7	564	---	---	---	---					
PAPPA2	60676	broad.mit.edu	37	1	176762723	176762724	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:176762723_176762724insC	ENST00000367662.3	+	20	6212_6213	c.5048_5049insC	c.(5047-5049)accfs	p.T1683fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1683	Sushi 5.				cell differentiation|proteolysis|regulation of cell growth	extracellular region|intracellular|membrane	metalloendopeptidase activity|zinc ion binding			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TTGTGTGTAATCCCCCCCAGTG	0.470													26	660	---	---	---	---					
TDRD5	163589	broad.mit.edu	37	1	179620102	179620102	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:179620102delT	ENST00000444136.1	+	12	2151	c.1901delT	c.(1900-1902)atfs	p.I634fs	TDRD5_ENST00000367614.1_Frame_Shift_Del_p.I634fs|TDRD5_ENST00000294848.8_Frame_Shift_Del_p.I634fs	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	634					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTTAACATTTTTTTGTGT	0.408													14	1047	---	---	---	---					
CACNA1E	777	broad.mit.edu	37	1	181680102	181680103	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:181680102_181680103delAG	ENST00000526775.1	+	8	1233_1234	c.1068_1069delAG	c.(1066-1071)aaagfs	p.KE356fs	CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000358338.5_Frame_Shift_Del_p.KE307fs|CACNA1E_ENST00000367573.2_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000360108.3_Frame_Shift_Del_p.KE356fs|CACNA1E_ENST00000357570.5_Frame_Shift_Del_p.KE307fs	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	356					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AATTTGCCAAAGAGAGAGAGAG	0.510													9	240	---	---	---	---					
DHX9	1660	broad.mit.edu	37	1	182852697	182852698	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:182852697_182852698insC	ENST00000367549.3	+	26	3297_3298	c.3187_3188insC	c.(3187-3189)cccfs	p.P1063fs	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1063				T -> P (in Ref. 1; AAB48855 and 2; CAA71668).	CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GACTTTAGTCACCCCCCTGCAG	0.441													7	473	---	---	---	---					
ATP2B4	493	broad.mit.edu	37	1	203667345	203667346	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:203667345_203667346insC	ENST00000357681.5	+	3	1377_1378	c.254_255insC	c.(253-255)accfs	p.T85fs	ATP2B4_ENST00000341360.2_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367218.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000367219.3_Frame_Shift_Ins_p.T85fs|ATP2B4_ENST00000391954.2_Frame_Shift_Ins_p.T85fs	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	85					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACAACGTGATCCCCCCCAAAA	0.480													11	215	---	---	---	---					
CR2	1380	broad.mit.edu	37	1	207642043	207642044	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:207642043_207642044insC	ENST00000367057.3	+	3	806_807	c.617_618insC	c.(616-618)gccfs	p.A206fs	CR2_ENST00000458541.2_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367059.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000367058.3_Frame_Shift_Ins_p.A206fs|CR2_ENST00000485707.1_3'UTR	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	206	Sushi 3.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.T209fs*10(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TGGAGTGCTGTCCCCCCCACAT	0.396													14	448	---	---	---	---					
PLXNA2	5362	broad.mit.edu	37	1	208391175	208391176	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:208391175_208391176insG	ENST00000367033.3	-	2	849_850	c.92_93insC	c.(91-93)cgcfs	p.R31fs		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	31					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGCCGGCTGCTGGGGGGGCCAG	0.653													12	138	---	---	---	---					
SIPA1L2	57568	broad.mit.edu	37	1	232650637	232650638	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:232650637_232650638insG	ENST00000366630.1	-	2	806_807	c.448_449insC	c.(448-450)aagfs	p.K150fs	SIPA1L2_ENST00000262861.4_Frame_Shift_Ins_p.K150fs			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	150					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AAGTCCTCTTTGGGGGGAATGG	0.490													10	768	---	---	---	---					
TARBP1	6894	broad.mit.edu	37	1	234556531	234556532	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:234556531_234556532insT	ENST00000040877.1	-	21	3470_3471	c.3471_3472insA	c.(3469-3474)aagctafs	p.L1158fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACATAGTAGCGTTTTTTGGACT	0.366													7	594	---	---	---	---					
ROCK2	9475	broad.mit.edu	37	2	11389836	11389837	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:11389836_11389837insA	ENST00000315872.6	-	4	860_861	c.412_413insT	c.(412-414)ggafs	p.G138fs	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	138	Protein kinase.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TCTTTCTTCCCAAAAAAAGGCA	0.356													8	586	---	---	---	---					
AGBL5	60509	broad.mit.edu	37	2	27278900	27278901	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:27278900_27278901insC	ENST00000360131.4	+	7	1418_1419	c.1259_1260insC	c.(1258-1260)accfs	p.T420fs	AGBL5_ENST00000323064.8_Frame_Shift_Ins_p.T420fs	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	420					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGATACCATCCCCCCCAAAG	0.515													16	309	---	---	---	---					
SLC8A1	6546	broad.mit.edu	37	2	40366704	40366705	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:40366704_40366705insG	ENST00000406785.1	-	7	2462_2463	c.2273_2274insC	c.(2272-2274)cacfs	p.H758fs	SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1_ENST00000542756.1_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000542024.1_Frame_Shift_Ins_p.H758fs|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000406391.2_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000405901.3_Frame_Shift_Ins_p.H789fs|SLC8A1_ENST00000405269.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000403092.1_Frame_Shift_Ins_p.H794fs|SLC8A1_ENST00000402441.1_Frame_Shift_Ins_p.H758fs|SLC8A1_ENST00000408028.2_Frame_Shift_Ins_p.H786fs|SLC8A1_ENST00000332839.4_Frame_Shift_Ins_p.H794fs			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	794					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTATTCAGTAGGGGGGACGAA	0.515													9	453	---	---	---	---					
PSME4	23198	broad.mit.edu	37	2	54167139	54167140	+	Splice_Site	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:54167139_54167140insG	ENST00000404125.1	-	4	556		c.e4-2		PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding	p.?(1)		breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTACAGAACTGGGGGGGGAAA	0.347													9	68	---	---	---	---					
LINC00152	112597	broad.mit.edu	37	2	87865524	87865525	+	RNA	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:87865524_87865525insC	ENST00000409054.1	+	0	278					NR_015395.1																						AAAATAAATTTCCCCCCAGAAC	0.455													9	476	---	---	---	---					
IL1R2	7850	broad.mit.edu	37	2	102638681	102638682	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:102638681_102638682insC	ENST00000332549.3	+	6	950_951	c.721_722insC	c.(721-723)cccfs	p.P241fs	IL1R2_ENST00000393414.2_Frame_Shift_Ins_p.P241fs|IL1R2_ENST00000441002.1_Frame_Shift_Ins_p.P241fs	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	241	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGTGATCATTTCCCCCCTCAAG	0.490													12	587	---	---	---	---					
FIGN	55137	broad.mit.edu	37	2	164467542	164467543	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:164467542_164467543insC	ENST00000333129.3	-	3	1113_1114	c.799_800insG	c.(799-801)accfs	p.T267fs	FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	267	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity	p.A267fs*100(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						CGGAGGCGGTGCCCCCCCAGGG	0.609													7	126	---	---	---	---					
XIRP2	129446	broad.mit.edu	37	2	168099957	168099958	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:168099957_168099958insG	ENST00000409195.1	+	9	2144_2145	c.2055_2056insG	c.(2053-2058)acggggfs	p.TG685fs	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Frame_Shift_Ins_p.TG685fs|XIRP2_ENST00000409273.1_Frame_Shift_Ins_p.TG463fs|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	510					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGGACATAACTGGGGGGGATGT	0.421													9	340	---	---	---	---					
MYO3B	140469	broad.mit.edu	37	2	171240258	171240259	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:171240258_171240259insC	ENST00000334231.6	+	12	1251_1252	c.1251_1252insC	c.(1249-1254)aaccccfs	p.NP417fs	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Frame_Shift_Ins_p.NP408fs|MYO3B_ENST00000409044.3_Frame_Shift_Ins_p.NP408fs			Q8WXR4	MYO3B_HUMAN	myosin IIIB	408	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GCGCCTCCAATCCCCCCCACAT	0.465													11	285	---	---	---	---					
ITGAV	3685	broad.mit.edu	37	2	187521084	187521085	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:187521084_187521085insG	ENST00000261023.3	+	17	1949_1950	c.1675_1676insG	c.(1675-1677)gggfs	p.G559fs	ITGAV_ENST00000433736.2_Frame_Shift_Ins_p.G513fs|AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Frame_Shift_Ins_p.G523fs	NM_002210.3	NP_002201.1	P06756	ITAV_HUMAN	integrin, alpha V	559					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GACTATTTCAAGGGGGGGACTG	0.431													9	805	---	---	---	---					
ADAM23	8745	broad.mit.edu	37	2	207460860	207460861	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:207460860_207460861insC	ENST00000264377.3	+	24	2661_2662	c.2333_2334insC	c.(2332-2334)cccfs	p.P778fs	ADAM23_ENST00000374415.3_Frame_Shift_Ins_p.P778fs|ADAM23_ENST00000374416.1_Frame_Shift_Ins_p.P778fs	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	778					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.K781fs*3(2)		NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGAACCTTCACCCCCCCAAGG	0.455													11	161	---	---	---	---					
CCDC108	255101	broad.mit.edu	37	2	219892686	219892687	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:219892686_219892687insG	ENST00000341552.5	-	13	1979_1980	c.1896_1897insC	c.(1894-1899)cctgacfs	p.D633fs	CCDC108_ENST00000453220.1_Frame_Shift_Ins_p.D633fs|CCDC108_ENST00000441968.1_Frame_Shift_Ins_p.D633fs|CCDC108_ENST00000410037.1_Frame_Shift_Ins_p.D568fs|CCDC108_ENST00000409865.3_Frame_Shift_Ins_p.D622fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	633						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACTCGGTCATGGGGGGGATAT	0.599													10	105	---	---	---	---					
NDUFA10	4705	broad.mit.edu	37	2	240954220	240954221	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr2:240954220_240954221insG	ENST00000252711.2	-	5	704_705	c.604_605insC	c.(604-606)cctfs	p.P202fs	NDUFA10_ENST00000307300.4_Frame_Shift_Ins_p.P242fs|NDUFA10_ENST00000404554.1_Frame_Shift_Ins_p.P202fs	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	202					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	AATCACCAGGTGGGGGGGCAGG	0.535													14	322	---	---	---	---					
SRGAP3	9901	broad.mit.edu	37	3	9034599	9034600	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:9034599_9034600insC	ENST00000383836.3	-	20	2975_2976	c.2548_2549insG	c.(2548-2550)gatfs	p.D850fs	SRGAP3_ENST00000360413.3_Frame_Shift_Ins_p.D826fs	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	850					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		CCGGCCCATCACCCCCCCAAAG	0.554			T	RAF1	pilocytic astrocytoma								7	207	---	---	---	---					
FANCD2	2177	broad.mit.edu	37	3	10088407	10088410	+	Splice_Site	DEL	AGTA	AGTA	-	rs146316187		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:10088407_10088410delAGTA	ENST00000287647.3	+	15	1371	c.1278_splice	c.e15+1	p.426_splice	FANCD2_ENST00000383806.1_Splice_Site_p.426_splice|FANCD2_ENST00000383807.1_Splice_Site_p.426_splice|FANCD2_ENST00000419585.1_Splice_Site_p.426_splice	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	426					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TTCATTACTTAGTAAGTGTCAGAG	0.358			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				7	48	---	---	---	---					
SLC6A1	6529	broad.mit.edu	37	3	11072861	11072862	+	Splice_Site	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:11072861_11072862insG	ENST00000287766.4	+	13	1744		c.e13-1		SLC6A1_ENST00000536032.1_Splice_Site	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1						neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	TTCATCTTGCAGGGGGGTATTT	0.500													7	414	---	---	---	---					
MLH1	4292	broad.mit.edu	37	3	37070348	37070349	+	Frame_Shift_Ins	INS	-	-	C	rs63750855		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:37070348_37070349insC	ENST00000231790.2	+	13	1699_1700	c.1483_1484insC	c.(1483-1485)cccfs	p.P495fs	MLH1_ENST00000435176.1_Frame_Shift_Ins_p.P397fs|MLH1_ENST00000539477.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000458205.2_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000536378.1_Frame_Shift_Ins_p.P254fs|MLH1_ENST00000455445.2_Frame_Shift_Ins_p.P254fs	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	495	Interaction with EXO1.				mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.T495A(1)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TGCAGCTTGTACCCCCCGGAGA	0.470		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				7	719	---	---	---	---					
VILL	50853	broad.mit.edu	37	3	38043303	38043304	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:38043303_38043304insC	ENST00000283713.6	+	13	1697_1698	c.1431_1432insC	c.(1429-1434)gaccccfs	p.DP477fs	VILL_ENST00000383759.2_Frame_Shift_Ins_p.DP477fs|VILL_ENST00000465644.1_Frame_Shift_Ins_p.DP195fs			O15195	VILL_HUMAN	villin-like	477					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton	p.H480fs*38(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		TGGGCAGCGAGCCCCCCCACTT	0.594													8	155	---	---	---	---					
GLT8D1	55830	broad.mit.edu	37	3	52731827	52731828	+	Frame_Shift_Ins	INS	-	-	C	rs115960994	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:52731827_52731828insC	ENST00000407584.3	-	5	1088_1089	c.238_239insG	c.(238-240)catfs	p.H80fs	GLT8D1_ENST00000266014.5_Frame_Shift_Ins_p.H80fs|GLT8D1_ENST00000491606.1_Frame_Shift_Ins_p.H80fs|GLT8D1_ENST00000478968.2_Frame_Shift_Ins_p.H80fs|GLT8D1_ENST00000394783.3_Frame_Shift_Ins_p.H80fs	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	80						integral to membrane|mitochondrion	transferase activity, transferring glycosyl groups			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AGCTGCAATGGCCCCCCCAAGC	0.485													8	135	---	---	---	---					
SFMBT1	51460	broad.mit.edu	37	3	52962211	52962212	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:52962211_52962212insG	ENST00000394752.3	-	9	1425_1426	c.1043_1044insC	c.(1042-1044)cccfs	p.P348fs	SFMBT1_ENST00000394750.1_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000296295.6_Frame_Shift_Ins_p.P348fs|SFMBT1_ENST00000358080.2_Frame_Shift_Ins_p.P348fs	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	348					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GTGCACCTGGAGGGGGGCTGAT	0.530													8	749	---	---	---	---					
IL17RB	55540	broad.mit.edu	37	3	53898813	53898814	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:53898813_53898814insC	ENST00000288167.3	+	11	996_997	c.987_988insC	c.(985-990)ctccccfs	p.LP329fs		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	329					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		CCACACTACTGCCCCCCATTAA	0.406													9	616	---	---	---	---					
KCTD6	200845	broad.mit.edu	37	3	58486771	58486772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:58486771_58486772insG	ENST00000355076.6	+	2	1109_1110	c.126_127insG	c.(124-129)ttggggfs	p.LG42fs	KCTD6_ENST00000404589.3_Frame_Shift_Ins_p.LG42fs|KCTD6_ENST00000479470.1_3'UTR|KCTD6_ENST00000490264.1_Frame_Shift_Ins_p.LG42fs	NM_153331.3	NP_699162.3	Q8NC69	KCTD6_HUMAN	potassium channel tetramerization domain containing 6	42	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|large_intestine(2)|lung(1)|skin(1)	5				BRCA - Breast invasive adenocarcinoma(55;0.000177)|Kidney(10;0.00229)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.148)		GAGCTATGTTTGGGGGGGACTT	0.465													12	481	---	---	---	---					
ATXN7	6314	broad.mit.edu	37	3	63981831	63981832	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:63981831_63981832insC	ENST00000398590.3	+	12	2886_2887	c.2333_2334insC	c.(2332-2334)gccfs	p.A778fs	ATXN7_ENST00000487717.1_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000484332.1_Frame_Shift_Ins_p.A633fs|ATXN7_ENST00000295900.6_Frame_Shift_Ins_p.A778fs|ATXN7_ENST00000538065.1_Frame_Shift_Ins_p.A778fs	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	778	Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TCAGGGAGGGGCCCCCCCACCG	0.545													8	189	---	---	---	---					
VGLL3	389136	broad.mit.edu	37	3	87018182	87018183	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:87018182_87018183insC	ENST00000398399.2	-	3	857_858	c.494_495insG	c.(493-495)ggtfs	p.G165fs	VGLL3_ENST00000383698.3_Frame_Shift_Ins_p.G165fs	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	165					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGGATGAACTCCCCCCAAACA	0.579													13	416	---	---	---	---					
FILIP1L	11259	broad.mit.edu	37	3	99568272	99568273	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:99568272_99568273insT	ENST00000331335.5	-	5	2717_2718	c.2247_2248insA	c.(2245-2250)aataaafs	p.NK749fs	FILIP1L_ENST00000476723.1_Intron|CMSS1_ENST00000496116.1_Intron|FILIP1L_ENST00000354552.3_Frame_Shift_Ins_p.NK749fs|FILIP1L_ENST00000487087.1_Frame_Shift_Ins_p.NK325fs|FILIP1L_ENST00000383694.2_Frame_Shift_Ins_p.NK509fs|CMSS1_ENST00000421999.2_Intron|FILIP1L_ENST00000471562.1_Frame_Shift_Ins_p.NK509fs	NM_001042459.1	NP_001035924.1	Q4L180	FIL1L_HUMAN	filamin A interacting protein 1-like	749						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						TGTTGATTTAGTTTTTTTTGCA	0.406													9	430	---	---	---	---					
LNP1	348801	broad.mit.edu	37	3	100148586	100148588	+	In_Frame_Del	DEL	GAT	GAT	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:100148586_100148588delGAT	ENST00000383693.3	+	2	1293_1295	c.13_15delGAT	c.(13-15)del	p.D10del	LNP1_ENST00000489752.1_In_Frame_Del_p.D10del	NM_001085451.1	NP_001078920.1	A1A4G5	LNP1_HUMAN	leukemia NUP98 fusion partner 1	10	Poly-Asp.									cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GGAGCACAAAGATGATGATGATG	0.507													7	1702	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)catfs	p.H253fs	ABCC5_ENST00000492216.1_5'UTR|ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTAGGATGGCCCCCCGCAAG	0.515													9	290	---	---	---	---					
SLC51A	200931	broad.mit.edu	37	3	195955037	195955038	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr3:195955037_195955038insG	ENST00000296327.5	+	5	623_624	c.414_415insG	c.(412-417)ttggggfs	p.LG138fs		NM_152672.5	NP_689885.4			solute carrier family 51, alpha subunit																		TGGAAGGCTTTGGGGGGAAGGA	0.614													7	570	---	---	---	---					
FAM193A	8603	broad.mit.edu	37	4	2661592	2661593	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:2661592_2661593insC	ENST00000324666.5	+	8	1034_1035	c.683_684insC	c.(682-684)gccfs	p.A228fs	FAM193A_ENST00000505311.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000382839.3_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000545951.1_Frame_Shift_Ins_p.A228fs|FAM193A_ENST00000502458.1_Frame_Shift_Ins_p.A252fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						GGTATCATGGACCCCCCCGTCA	0.525													18	815	---	---	---	---					
EVC	2121	broad.mit.edu	37	4	5785361	5785362	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:5785361_5785362insC	ENST00000382674.2	+	12	1830_1831	c.1646_1647insC	c.(1645-1647)cccfs	p.P549fs	EVC_ENST00000264956.6_Frame_Shift_Ins_p.P549fs			P57679	EVC_HUMAN	Ellis van Creveld syndrome	549					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ATGACTGGCCTCCCCCCGGAAG	0.584													21	727	---	---	---	---					
CPEB2	132864	broad.mit.edu	37	4	15067857	15067858	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:15067857_15067858insT	ENST00000538197.1	+	12	2958_2959	c.2958_2959insT	c.(2956-2961)ccttttfs	p.PF986fs	CPEB2_ENST00000507071.1_Frame_Shift_Ins_p.PF541fs|CPEB2_ENST00000382395.3_Frame_Shift_Ins_p.PF519fs|CPEB2_ENST00000442003.2_Frame_Shift_Ins_p.PF959fs|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Frame_Shift_Ins_p.PF549fs|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Frame_Shift_Ins_p.PF511fs|CPEB2_ENST00000541112.1_Frame_Shift_Ins_p.PF978fs|CPEB2_ENST00000382401.3_Frame_Shift_Ins_p.PF514fs	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	541					regulation of translation	cytoplasm	nucleotide binding|RNA binding	p.P541P(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AATTTGCTCCCTTTTTTTGTGC	0.441													9	950	---	---	---	---					
ATP10D	57205	broad.mit.edu	37	4	47559697	47559698	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:47559697_47559698insG	ENST00000273859.3	+	12	2110_2111	c.1841_1842insG	c.(1840-1842)cggfs	p.R614fs	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	614					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACCCTTCACTGGGGGGGTTGC	0.401													7	146	---	---	---	---					
FRAS1	80144	broad.mit.edu	37	4	79238582	79238583	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:79238582_79238583insC	ENST00000264895.6	+	17	2320_2321	c.1880_1881insC	c.(1879-1881)accfs	p.T627fs	FRAS1_ENST00000264899.6_Frame_Shift_Ins_p.T627fs|FRAS1_ENST00000325942.6_Frame_Shift_Ins_p.T627fs	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	627					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAGCCTGCAGCCCCCCCAAGG	0.574													7	173	---	---	---	---					
HPGDS	27306	broad.mit.edu	37	4	95223320	95223321	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:95223320_95223321insC	ENST00000295256.5	-	5	501_502	c.411_412insG	c.(409-414)gggagafs	p.R138fs		NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	138	GST C-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	AGCCATTCTCTCCCCCCTAAAT	0.351													8	978	---	---	---	---					
UNC5C	8633	broad.mit.edu	37	4	96091356	96091357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:96091356_96091357insG	ENST00000453304.1	-	15	2926_2927	c.2578_2579insC	c.(2578-2580)gacfs	p.D860fs		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	860	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCCTCTCGTCTGGGGGGCATCC	0.599													12	662	---	---	---	---					
CFI	3426	broad.mit.edu	37	4	110662158	110662159	+	Frame_Shift_Ins	INS	-	-	C	rs7437875	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:110662158_110662159insC	ENST00000394634.2	-	13	1849_1850	c.1642_1643insG	c.(1642-1644)aaafs	p.K548fs	CFI_ENST00000512148.1_Frame_Shift_Ins_p.K541fs|CFI_ENST00000394635.3_Frame_Shift_Ins_p.K556fs	NM_000204.3	NP_000195.2	P05156	CFAI_HUMAN	complement factor I	548	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		TCCACAGTTTTCCCCCCAACTC	0.465													9	431	---	---	---	---					
RRH	10692	broad.mit.edu	37	4	110763720	110763721	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:110763720_110763721insC	ENST00000317735.4	+	6	850_851	c.816_817insC	c.(814-819)ccccccfs	p.PP272fs		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	272					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		AGAAGATTCCTCCCCCCATGGC	0.416													7	437	---	---	---	---					
SETD7	80854	broad.mit.edu	37	4	140432891	140432892	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:140432891_140432892insG	ENST00000274031.3	-	8	1662_1663	c.1026_1027insC	c.(1024-1029)ccggaafs	p.E343fs	SETD7_ENST00000506866.2_Intron	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	343					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					CCACTCTTCCCGGGGGGGCTGT	0.609													8	223	---	---	---	---					
TENM3	55714	broad.mit.edu	37	4	183609358	183609359	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:183609358_183609359insG	ENST00000511685.1	+	12	2198_2199	c.2075_2076insG	c.(2074-2076)aggfs	p.R692fs	TENM3_ENST00000502950.1_3'UTR|TENM3_ENST00000406950.2_Frame_Shift_Ins_p.R692fs					teneurin transmembrane protein 3																		GGCGTTTGCATGGGGGGGACGT	0.589													12	414	---	---	---	---					
TLR3	7098	broad.mit.edu	37	4	186997804	186997805	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:186997804_186997805insG	ENST00000296795.2	+	2	135_136	c.31_32insG	c.(31-33)gggfs	p.G11fs		NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	11					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TATCTACTTTTGGGGGGGCCTT	0.446													14	239	---	---	---	---					
FAT1	2195	broad.mit.edu	37	4	187558038	187558039	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:187558038_187558039insG	ENST00000441802.2	-	5	3881_3882	c.3672_3673insC	c.(3670-3675)ccaatcfs	p.I1225fs		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1225	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATGGTTGATTTGGGGGGACTAC	0.361										HNSCC(5;0.00058)			14	1234	---	---	---	---					
MROH2B	133558	broad.mit.edu	37	5	41004528	41004528	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:41004528delT	ENST00000399564.4	-	37	4564	c.4114delA	c.(4114-4116)tcfs	p.I1372fs	MROH2B_ENST00000506092.2_Frame_Shift_Del_p.I927fs	NM_173489.4	NP_775760.3			maestro heat-like repeat family member 2B																		AGCTCCAGGATTTTTTTTAGA	0.438													8	365	---	---	---	---					
C6	729	broad.mit.edu	37	5	41159256	41159257	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:41159256_41159257insG	ENST00000263413.3	-	12	2047_2048	c.1783_1784insC	c.(1783-1785)acgfs	p.T595fs	C6_ENST00000337836.5_Frame_Shift_Ins_p.T595fs	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	595	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding	p.Q595K(1)		central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCCTCCTCGTTGGGGGGCAGGA	0.500													9	365	---	---	---	---					
MAP1B	4131	broad.mit.edu	37	5	71490419	71490420	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:71490419_71490420insA	ENST00000296755.7	+	5	1535_1536	c.1237_1238insA	c.(1237-1239)aaafs	p.K413fs		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	413						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CATTCTTTTCCAAAAAATGGGA	0.401													7	597	---	---	---	---					
CMYA5	202333	broad.mit.edu	37	5	79041149	79041151	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:79041149_79041151delGAA	ENST00000446378.2	+	4	10870_10872	c.10839_10841delGAA	c.(10837-10842)gtg>gt	p.VK3613del		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3613	B-box coiled-coil; BBC.					perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTGAGGAAGTGAAGAAGAAGAAG	0.448													7	391	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127610310	127610311	+	Frame_Shift_Ins	INS	-	-	C	rs151053868		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:127610310_127610311insC	ENST00000508053.1	-	66	8633_8634	c.7659_7660insG	c.(7657-7662)ggttacfs	p.Y2554fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.Y2554fs			P35556	FBN2_HUMAN	fibrillin 2	2554	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TTACAGGTAAACCCCCCCAGGG	0.421													19	478	---	---	---	---					
FBN2	2201	broad.mit.edu	37	5	127648336	127648337	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:127648336_127648337insG	ENST00000508053.1	-	43	5842_5843	c.4868_4869insC	c.(4867-4869)cgtfs	p.R1623fs	FBN2_ENST00000262464.4_Frame_Shift_Ins_p.R1623fs			P35556	FBN2_HUMAN	fibrillin 2	1623	TB 6.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.P1623P(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCTATTGACAGGGGGGCATGT	0.505													9	1475	---	---	---	---					
TCF7	6932	broad.mit.edu	37	5	133473764	133473765	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:133473764_133473765insC	ENST00000395029.1	+	4	651_652	c.456_457insC	c.(454-459)caccccfs	p.HP152fs	TCF7_ENST00000518915.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000395023.1_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000342854.5_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000432532.2_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378560.4_Frame_Shift_Ins_p.HP37fs|TCF7_ENST00000378564.1_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321603.6_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000321584.4_Frame_Shift_Ins_p.HP152fs|TCF7_ENST00000520958.1_Frame_Shift_Ins_p.HP37fs			P36402	TCF7_HUMAN	transcription factor 7 (T-cell specific, HMG-box)	152					cellular response to interleukin-4|immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(7)|lung(2)|skin(1)	12		Breast(839;0.058)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGCCAATCAGCCCCCCCACGG	0.574													11	128	---	---	---	---					
SEC24A	10802	broad.mit.edu	37	5	134053794	134053795	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:134053794_134053795insC	ENST00000398844.2	+	20	3189_3190	c.2901_2902insC	c.(2899-2904)caccccfs	p.HP967fs		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	967					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCATACCTCAGCCCCCCATTCT	0.426													7	265	---	---	---	---					
ARAP3	64411	broad.mit.edu	37	5	141049341	141049342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:141049341_141049342insC	ENST00000239440.4	-	16	2351_2352	c.2286_2287insG	c.(2284-2289)ggggatfs	p.D763fs	ARAP3_ENST00000508305.1_Frame_Shift_Ins_p.D665fs|ARAP3_ENST00000513878.1_Frame_Shift_Ins_p.D425fs	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	763					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TGCTGGATCCTCCCCCCAGCGA	0.579													8	375	---	---	---	---					
PCDH1	5097	broad.mit.edu	37	5	141244441	141244442	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:141244441_141244442insG	ENST00000287008.3	-	3	1601_1602	c.1454_1455insC	c.(1453-1455)cctfs	p.P485fs	PCDH1_ENST00000456271.1_Frame_Shift_Ins_p.P473fs|PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000536585.1_Frame_Shift_Ins_p.P463fs|PCDH1_ENST00000394536.3_Frame_Shift_Ins_p.P485fs	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	485	Cadherin 4.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		TGCTGGAGAGTGGGGGGTTGCC	0.530													8	536	---	---	---	---					
PCDH12	51294	broad.mit.edu	37	5	141336747	141336748	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:141336747_141336748insG	ENST00000231484.3	-	1	1879_1880	c.669_670insC	c.(667-672)ccagtcfs	p.V224fs		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	224	Cadherin 2.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACCTGACTTGGGGGGGTTCC	0.480													9	261	---	---	---	---					
ARHGAP26	23092	broad.mit.edu	37	5	142586762	142586763	+	Splice_Site	INS	-	-	C	rs144777273		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:142586762_142586763insC	ENST00000378004.3	+	21	2343_2344		c.e21-1		ARHGAP26_ENST00000486650.1_Intron|ARHGAP26_ENST00000274498.4_Splice_Site	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26						actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTCTTGCAGCCCCCCGAATC	0.579													8	436	---	---	---	---					
PPP2R2B	5521	broad.mit.edu	37	5	145969651	145969652	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:145969651_145969652insC	ENST00000394413.3	-	9	1760_1761	c.1190_1191insG	c.(1189-1191)gaafs	p.E397fs	PPP2R2B_ENST00000504198.1_Frame_Shift_Ins_p.E403fs|PPP2R2B_ENST00000394410.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394414.1_Frame_Shift_Ins_p.E463fs|PPP2R2B_ENST00000394411.4_Frame_Shift_Ins_p.E397fs|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000453001.1_Frame_Shift_Ins_p.E397fs|PPP2R2B_ENST00000336640.6_Frame_Shift_Ins_p.E400fs|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000508545.2_Frame_Shift_Ins_p.E386fs|PPP2R2B_ENST00000394409.3_Frame_Shift_Ins_p.E455fs|PPP2R2B_ENST00000356826.3_Frame_Shift_Ins_p.E397fs			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	397					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCTCCGCTTGCCCCCCACACA	0.500													8	752	---	---	---	---					
LARP1	23367	broad.mit.edu	37	5	154181821	154181822	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:154181821_154181822insG	ENST00000336314.4	+	11	1764_1765	c.1740_1741insG	c.(1738-1743)ccggggfs	p.PG580fs		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	657							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)			GCCGGCACCCAGGGGGGGACCG	0.550													7	166	---	---	---	---					
FNDC9	408263	broad.mit.edu	37	5	156769909	156769910	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr5:156769909_156769910insC	ENST00000312349.4	-	2	822_823	c.635_636insG	c.(634-636)gggfs	p.G212fs	CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000347377.6_Intron	NM_001001343.3	NP_001001343.2	Q8TBE3	FNDC9_HUMAN	fibronectin type III domain containing 9	212						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GTGGGTCACCACCCCCCCTCTG	0.584											OREG0016977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	12	201	---	---	---	---					
GCNT2	2651	broad.mit.edu	37	6	10557409	10557410	+	Frame_Shift_Ins	INS	-	-	C	rs55808116		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:10557409_10557410insC	ENST00000316170.3	+	1	1170_1171	c.753_754insC	c.(751-756)ccccccfs	p.PP251fs	GCNT2_ENST00000379597.3_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000410107.1_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	253						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TGAAACCGCCTCCCCCCCATAA	0.485													12	389	---	---	---	---					
PHACTR1	221692	broad.mit.edu	37	6	13206134	13206135	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:13206134_13206135insG	ENST00000379350.1	+	7	881_882	c.752_753insG	c.(751-753)gggfs	p.G251fs	PHACTR1_ENST00000379345.2_Intron|PHACTR1_ENST00000457702.2_Frame_Shift_Ins_p.G106fs|PHACTR1_ENST00000332995.7_Frame_Shift_Ins_p.G251fs			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	251						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			TGTATGCCCGTGGGGGGGCCAG	0.599													10	332	---	---	---	---					
KIF13A	63971	broad.mit.edu	37	6	17837307	17837308	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:17837307_17837308insC	ENST00000378814.5	-	11	955_956	c.956_957insG	c.(955-957)gaafs	p.E319fs	KIF13A_ENST00000259711.6_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378816.5_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378843.2_Frame_Shift_Ins_p.E319fs|KIF13A_ENST00000378826.2_Frame_Shift_Ins_p.E319fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	319					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TTTGGCTGTTGCCCCCCAAGTT	0.450													17	347	---	---	---	---					
DCDC2	51473	broad.mit.edu	37	6	24205282	24205283	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:24205282_24205283insC	ENST00000378454.3	-	8	1271_1272	c.970_971insG	c.(970-972)agcfs	p.S324fs	DCDC2_ENST00000378450.3_Frame_Shift_Ins_p.S77fs	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	324					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				GACTTCTGCTGCCCCCCGTGTT	0.411													19	1836	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30571291	30571292	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:30571291_30571292insC	ENST00000376511.2	-	16	2276_2277	c.1724_1725insG	c.(1723-1725)gggfs	p.G575fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	575	Gly-rich.|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCCTCCTCCTCCAGGGCCTTG	0.579													7	394	---	---	---	---					
C6orf25	80739	broad.mit.edu	37	6	31692528	31692529	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:31692528_31692529insC	ENST00000375809.3	+	5	558_559	c.547_548insC	c.(547-549)cccfs	p.P183fs	C6orf25_ENST00000480039.1_Intron|C6orf25_ENST00000375810.4_Frame_Shift_Ins_p.P183fs|C6orf25_ENST00000375805.2_Frame_Shift_Ins_p.CP152fs	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	0						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TTCAGCTCTGTCCCCCCCACAT	0.579													8	339	---	---	---	---					
FKBPL	63943	broad.mit.edu	37	6	32097085	32097086	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:32097085_32097086insC	ENST00000375156.3	-	2	742_743	c.472_473insG	c.(472-474)gctfs	p.A158fs		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	158					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CTCTATGAGCTCCCCCCAAGTT	0.589													7	215	---	---	---	---					
PPT2	9374	broad.mit.edu	37	6	32130626	32130627	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:32130626_32130627insG	ENST00000324816.6	+	9	1376_1377	c.808_809insG	c.(808-810)gggfs	p.G270fs	PPT2_ENST00000375137.2_Frame_Shift_Ins_p.G270fs|PPT2_ENST00000361568.2_Frame_Shift_Ins_p.G276fs|PPT2_ENST00000375143.2_Frame_Shift_Ins_p.G270fs|PPT2_ENST00000395523.1_Frame_Shift_Ins_p.G270fs|PPT2-EGFL8_ENST00000422437.1_Intron|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000437001.2_Intron|PPT2-EGFL8_ENST00000453656.2_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	270					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.R276Q(1)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						TCTATTGGCCCGGGGGGCCATA	0.540													9	196	---	---	---	---					
NOTCH4	4855	broad.mit.edu	37	6	32188294	32188295	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:32188294_32188295insC	ENST00000375023.3	-	6	1184_1185	c.1046_1047insG	c.(1045-1047)gacfs	p.D349fs		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	349	EGF-like 8; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CACAGCTTGTGCCGCCCCAGCC	0.614													7	539	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32522379	32522380	+	RNA	INS	-	-	C	rs112115106		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:32522379_32522380insC	ENST00000411500.1	-	0	740					NR_001298.1																						TGAAAATAGGATTGGGAGAGTA	0.475													9	68	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:32948228_32948229insC	ENST00000395289.2	+	13	3962_3963	c.2361_2362insC	c.(2359-2364)aaccccfs	p.NP787fs	BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs			P25440	BRD2_HUMAN	bromodomain containing 2	752	ET.|Poly-Ser.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426													7	323	---	---	---	---					
HLA-DOA	3111	broad.mit.edu	37	6	32975278	32975279	+	Frame_Shift_Ins	INS	-	-	G	rs115076830	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:32975278_32975279insG	ENST00000229829.5	-	3	497_498	c.422_423insC	c.(421-423)cgtfs	p.R141fs	HLA-DOA_ENST00000450833.2_Frame_Shift_Ins_p.R111fs|HLA-DOA_ENST00000495532.1_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	141	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TATTGATCACAGGGGGGAAGAT	0.584													7	888	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|VPS52_ENST00000478934.1_5'UTR|HCG25_ENST00000450514.1_RNA|HCG25_ENST00000427196.1_RNA	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													32	214	---	---	---	---					
UHRF1BP1	54887	broad.mit.edu	37	6	34791081	34791082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:34791081_34791082insC	ENST00000192788.5	+	4	465_466	c.294_295insC	c.(292-297)cgccccfs	p.RP98fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Ins_p.RP98fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	98										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGATCCTCGGCCCCCCAATGG	0.446													21	1426	---	---	---	---					
TNFRSF21	27242	broad.mit.edu	37	6	47253988	47253989	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:47253988_47253989insG	ENST00000296861.2	-	2	832_833	c.439_440insC	c.(439-441)tacfs	p.Y147fs		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	147					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			ACACACCGTATGGGGGGCACAG	0.554													11	914	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55039410	55039411	+	Frame_Shift_Ins	INS	-	-	C	rs76774128		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:55039410_55039411insC	ENST00000370862.3	+	1	361_362	c.25_26insC	c.(25-27)cccfs	p.P9fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	9					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.P11fs*11(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ATTGGAGGACTCCCCCCCTTGT	0.564													10	353	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(358-363)tgttttfs	p.CF120fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	120					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAGACCTGGTTTTTTGGACA	0.431													9	1402	---	---	---	---					
HTR1E	3354	broad.mit.edu	37	6	87725846	87725847	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:87725846_87725847insC	ENST00000305344.4	+	2	1497_1498	c.794_795insC	c.(793-795)accfs	p.T265fs	HTR1E_ENST00000369584.1_Frame_Shift_Ins_p.T265fs	NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled	265					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.F268fs*4(1)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	TCCATCAGGATCCCCCCCTTCG	0.510													7	386	---	---	---	---					
REV3L	5980	broad.mit.edu	37	6	111693903	111693904	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:111693903_111693904insG	ENST00000435970.1	-	15	6236_6237	c.5420_5421insC	c.(5419-5421)cagfs	p.Q1807fs	REV3L_ENST00000358835.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.Q1885fs|REV3L_ENST00000368805.1_Frame_Shift_Ins_p.Q1885fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1885					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCCCTACTTGGGGGGGACAT	0.431								DNA polymerases (catalytic subunits)					15	343	---	---	---	---					
KIAA0408	9729	broad.mit.edu	37	6	127767595	127767596	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr6:127767595_127767596insC	ENST00000483725.3	-	5	2204_2205	c.1868_1869insG	c.(1867-1869)gcafs	p.A623fs	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	623							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TCACTTCCTGTCCCCCCCACAC	0.401													15	390	---	---	---	---					
NUPL2	11097	broad.mit.edu	37	7	23224772	23224773	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:23224772_23224773insG	ENST00000258742.5	+	2	464_465	c.205_206insG	c.(205-207)gggfs	p.G69fs	NUPL2_ENST00000410002.3_Frame_Shift_Ins_p.G69fs|NUPL2_ENST00000487595.1_3'UTR|AC005082.1_ENST00000366347.4_Intron	NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	69					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATCCACACCATGGGGGGGCAGC	0.406													8	127	---	---	---	---					
PPP1R17	10842	broad.mit.edu	37	7	31735178	31735179	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:31735178_31735179insA	ENST00000342032.3	+	3	806_807	c.178_179insA	c.(178-180)aaafs	p.K60fs	PPP1R17_ENST00000409146.3_Intron	NM_006658.4	NP_006649.2	O96001	GSUB_HUMAN	protein phosphatase 1, regulatory subunit 17	60					behavior|central nervous system development|intracellular protein kinase cascade|protein phosphorylation	soluble fraction											TGAGTCAGACCAAAAAAAACCA	0.436													9	420	---	---	---	---					
C7orf10	79783	broad.mit.edu	37	7	40899961	40899962	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:40899961_40899962insC	ENST00000309930.5	+	15	1323_1324	c.1299_1300insC	c.(1297-1302)ccccccfs	p.PP433fs	C7orf10_ENST00000401647.2_Frame_Shift_Ins_p.PP359fs|C7orf10_ENST00000335693.4_Frame_Shift_Ins_p.PP407fs|C7orf10_ENST00000464028.1_3'UTR	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	407							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						AGGCCAGGCCGCCCCCGCTGCT	0.569													15	749	---	---	---	---					
KCTD7	154881	broad.mit.edu	37	7	66270286	66270287	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:66270286_66270287insC	ENST00000380828.2	+	10	1254_1255	c.1100_1101insC	c.(1099-1101)accfs	p.T367fs	KCTD7_ENST00000451741.2_Frame_Shift_Ins_p.T327fs|RABGEF1_ENST00000450873.2_Frame_Shift_Ins_p.T327fs|RABGEF1_ENST00000439720.2_Frame_Shift_Ins_p.T340fs|KCTD7_ENST00000510829.2_Frame_Shift_Ins_p.T327fs|RABGEF1_ENST00000437078.2_Frame_Shift_Ins_p.T341fs|RABGEF1_ENST00000284957.5_Frame_Shift_Ins_p.T327fs|RABGEF1_ENST00000484547.2_3'UTR			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TTGAAGGGCAACCCCCCACGCC	0.505													7	213	---	---	---	---					
AKAP9	10142	broad.mit.edu	37	7	91732038	91732039	+	Frame_Shift_Ins	INS	-	-	G	rs143306820		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:91732038_91732039insG	ENST00000359028.2	+	46	11465_11466	c.11240_11241insG	c.(11239-11241)aggfs	p.R3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Ins_p.R3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Ins_p.R3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					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)			CTTGCCCGGATGGGGGGGCAGC	0.535			T	BRAF	papillary thyroid								22	330	---	---	---	---					
ZCWPW1	55063	broad.mit.edu	37	7	100000150	100000151	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:100000150_100000151insT	ENST00000398027.2	-	16	1706_1707	c.1459_1460insA	c.(1459-1461)caafs	p.Q487fs	ZCWPW1_ENST00000490721.1_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000324725.6_Frame_Shift_Ins_p.Q367fs|ZCWPW1_ENST00000360951.4_Intron	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	487							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCTTGGCTTGGTTTTTTGGGTC	0.480													13	3556	---	---	---	---					
PAX4	5078	broad.mit.edu	37	7	127255556	127255557	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:127255556_127255557insC	ENST00000341640.2	-	1	223_224	c.18_19insG	c.(16-21)ggtcttfs	p.L7fs	PAX4_ENST00000378740.2_Frame_Shift_Ins_p.L7fs|PAX4_ENST00000463946.1_5'UTR|PAX4_ENST00000338516.3_Frame_Shift_Ins_p.L15fs	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	15	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TTCACAAAGAGCCCCCCAAGCT	0.609													7	182	---	---	---	---					
TNPO3	23534	broad.mit.edu	37	7	128610258	128610259	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:128610258_128610259insG	ENST00000393245.1	-	20	3016_3017	c.2643_2644insC	c.(2641-2646)ccatacfs	p.Y882fs	TNPO3_ENST00000482320.1_Frame_Shift_Ins_p.Y782fs|TNPO3_ENST00000471234.1_Frame_Shift_Ins_p.Y784fs|TNPO3_ENST00000265388.5_Frame_Shift_Ins_p.Y848fs|TNPO3_ENST00000471166.1_Frame_Shift_Ins_p.Y882fs	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	848					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						GGTAGGGTATAGGGGGGGAGGC	0.485													31	513	---	---	---	---					
EXOC4	60412	broad.mit.edu	37	7	133682284	133682285	+	Frame_Shift_Ins	INS	-	-	C	rs34608222	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:133682284_133682285insC	ENST00000253861.4	+	15	2275_2276	c.2246_2247insC	c.(2245-2247)cccfs	p.P749fs	EXOC4_ENST00000541309.1_Frame_Shift_Ins_p.P37fs|EXOC4_ENST00000539845.1_Frame_Shift_Ins_p.P648fs|EXOC4_ENST00000545148.1_Frame_Shift_Ins_p.P359fs	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	749					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACACGGATCTCCCCCCAGTGT	0.460													8	512	---	---	---	---					
TRIM24	8805	broad.mit.edu	37	7	138261142	138261143	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:138261142_138261143insC	ENST00000343526.4	+	13	2254_2255	c.2039_2040insC	c.(2038-2040)cccfs	p.P680fs	TRIM24_ENST00000415680.2_Frame_Shift_Ins_p.P646fs			O15164	TIF1A_HUMAN	tripartite motif containing 24	680					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ACTAGTGTACACCCCCCAATAC	0.391													9	287	---	---	---	---					
SVOPL	136306	broad.mit.edu	37	7	138312995	138312996	+	Frame_Shift_Ins	INS	-	-	C	rs79662895		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:138312995_138312996insC	ENST00000421622.1	-	7	824_825	c.616_617insG	c.(616-618)ctcfs	p.L206fs	SVOPL_ENST00000436657.1_Frame_Shift_Ins_p.L174fs|SVOPL_ENST00000288513.5_Frame_Shift_Ins_p.L174fs|SVOPL_ENST00000419765.3_Frame_Shift_Ins_p.L326fs			Q8N434	SVOPL_HUMAN	SVOP-like	326						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCCCCTGAGTCCCCCCCAGTC	0.554													7	187	---	---	---	---					
TRBV4-2	28616	broad.mit.edu	37	7	142045511	142045512	+	RNA	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:142045511_142045512insC	ENST00000390392.3	+	0	160																											TTTGTCCCTTTCCCCCCGCAGT	0.485													7	402	---	---	---	---					
TRPV5	56302	broad.mit.edu	37	7	142612493	142612494	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:142612493_142612494insC	ENST00000265310.1	-	10	1617_1618	c.1269_1270insG	c.(1267-1272)ggcattfs	p.I424fs		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	424					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACATGGAATGGCCCCCCAAGAA	0.505													7	529	---	---	---	---					
KEL	3792	broad.mit.edu	37	7	142639979	142639980	+	Frame_Shift_Ins	INS	-	-	C	rs140258059		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:142639979_142639980insC	ENST00000355265.2	-	17	2397_2398	c.1923_1924insG	c.(1921-1926)ggtagcfs	p.S642fs		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	642					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCGATGGCTAGCCCCCCAACGT	0.500													14	1095	---	---	---	---					
ENTPD4	9583	broad.mit.edu	37	8	23294483	23294484	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr8:23294483_23294484insC	ENST00000358689.4	-	10	1572_1573	c.1337_1338insG	c.(1336-1338)ggafs	p.G446fs	ENTPD4_ENST00000521321.1_5'UTR|ENTPD4_ENST00000417069.2_Frame_Shift_Ins_p.G438fs|ENTPD4_ENST00000356206.6_Frame_Shift_Ins_p.G438fs	NM_001128930.2|NM_004901.4	NP_001122402.1|NP_004892.1	Q9Y227	ENTP4_HUMAN	ectonucleoside triphosphate diphosphohydrolase 4	446					UDP catabolic process	autophagic vacuole membrane|cytoplasmic vesicle|integral to Golgi membrane	uridine-diphosphatase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	25		Prostate(55;0.114)		Colorectal(74;0.0161)|COAD - Colon adenocarcinoma(73;0.0649)		CATTGTAGTCTCCCCCCATTCG	0.500													18	746	---	---	---	---					
DPYSL2	1808	broad.mit.edu	37	8	26513183	26513184	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr8:26513183_26513184insC	ENST00000311151.5	+	14	2092_2093	c.1680_1681insC	c.(1678-1683)gcccccfs	p.AP560fs	DPYSL2_ENST00000521913.1_Frame_Shift_Ins_p.AP524fs|DPYSL2_ENST00000523027.1_Frame_Shift_Ins_p.AP524fs	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	560					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		GTATCGTGGCGCCCCCCGGTGG	0.644											OREG0018659	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	9	579	---	---	---	---					
MYBL1	4603	broad.mit.edu	37	8	67488452	67488453	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr8:67488452_67488453insT	ENST00000522677.3	-	10	1669_1670	c.1259_1260insA	c.(1258-1260)aacfs	p.N420fs	MYBL1_ENST00000517885.1_Intron|MYBL1_ENST00000524176.2_Frame_Shift_Ins_p.N420fs	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	420	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			CATTACAAGTGTTTTTTTTCCC	0.406													18	795	---	---	---	---					
ARFGEF1	10565	broad.mit.edu	37	8	68128855	68128856	+	Frame_Shift_Ins	INS	-	-	G	rs142098461		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr8:68128855_68128856insG	ENST00000262215.3	-	33	5044_5045	c.4655_4656insC	c.(4654-4656)cccfs	p.P1552fs	ARFGEF1_ENST00000518230.1_Frame_Shift_Ins_p.P390fs|ARFGEF1_ENST00000520381.1_Frame_Shift_Ins_p.P1006fs	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1552					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GAGATGGAGGTGGGGGGGCAGT	0.421													13	277	---	---	---	---					
PREX2	80243	broad.mit.edu	37	8	68992720	68992721	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr8:68992720_68992721insT	ENST00000288368.4	+	16	1962_1963	c.1685_1686insT	c.(1684-1686)cttfs	p.L562fs	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	562	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTACTTTTCCGTTTTTTTTCGG	0.332													8	141	---	---	---	---					
SULF1	23213	broad.mit.edu	37	8	70488248	70488249	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr8:70488248_70488249insG	ENST00000260128.4	+	6	933_934	c.216_217insG	c.(214-219)caggggfs	p.QG72fs	SULF1_ENST00000458141.2_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000419716.3_Frame_Shift_Ins_p.QG72fs|SULF1_ENST00000402687.4_Frame_Shift_Ins_p.QG72fs	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	72					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTATGGAACATGGGGGGGCCAC	0.495													8	83	---	---	---	---					
LRRC6	23639	broad.mit.edu	37	8	133634926	133634926	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr8:133634926delT	ENST00000519595.1	-	7	943	c.845delA	c.(844-846)agfs	p.K284fs	LRRC6_ENST00000250173.1_Frame_Shift_Del_p.K284fs|LRRC6_ENST00000518642.1_Frame_Shift_Del_p.K284fs			Q86X45	LRRC6_HUMAN	leucine rich repeat containing 6	284	Poly-Lys.					cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CACTTTCTTCTTTTTTTCACT	0.378													7	1113	---	---	---	---					
ERMP1	79956	broad.mit.edu	37	9	5801291	5801292	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:5801291_5801292insT	ENST00000339450.5	-	11	2040_2041	c.1951_1952insA	c.(1951-1953)catfs	p.H651fs	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Frame_Shift_Ins_p.H229fs|ERMP1_ENST00000381506.3_3'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	651					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		AGTTAGCATGGTTTTTTTTGTG	0.361													7	429	---	---	---	---					
ADAMTSL1	92949	broad.mit.edu	37	9	18829842	18829843	+	Splice_Site	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:18829842_18829843insC	ENST00000380548.4	+	23	4455_4456	c.4114_splice	c.e23-1	p.DP1372_splice	ADAMTSL1_ENST00000380545.5_Splice_Site_p.DP73_splice	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1372						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCTCACAGATCCCCCCCAAGT	0.564													12	300	---	---	---	---					
PIGO	84720	broad.mit.edu	37	9	35091522	35091523	+	Frame_Shift_Ins	INS	-	-	G	rs144233446		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:35091522_35091523insG	ENST00000378617.3	-	7	2755_2756	c.2361_2362insC	c.(2359-2364)cccttcfs	p.F788fs	PIGO_ENST00000341666.3_Frame_Shift_Ins_p.F788fs|PIGO_ENST00000298004.5_Intron|PIGO_ENST00000361778.2_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	788					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.T788fs*5(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTGAGAAGTGGGGGGGCCTG	0.604													20	169	---	---	---	---					
ANKRD19P	138649	broad.mit.edu	37	9	95649123	95649124	+	RNA	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:95649123_95649124insC	ENST00000473204.1	+	0	2259																											GCAATCTAGCACCCCCCAAAAG	0.540													13	421	---	---	---	---					
GABBR2	9568	broad.mit.edu	37	9	101125081	101125082	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:101125081_101125082insC	ENST00000259455.2	-	13	2267_2268	c.1808_1809insG	c.(1807-1809)gatfs	p.D603fs		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	603					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TCAGCAGCATGCCCCCCACGAT	0.584													7	190	---	---	---	---					
MRPL50	54534	broad.mit.edu	37	9	104152774	104152775	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:104152774_104152775insG	ENST00000374865.4	-	2	471_472	c.450_451insC	c.(448-453)ccatttfs	p.F151fs	MRPL50_ENST00000539624.1_Intron	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	151						mitochondrion|ribosome		p.P150P(1)		large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ATTTTCAAATTGGGGGGCAGAT	0.401													11	413	---	---	---	---					
ABCA1	19	broad.mit.edu	37	9	107593322	107593323	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:107593322_107593323insC	ENST00000374736.3	-	14	2169_2170	c.1775_1776insG	c.(1774-1776)gttfs	p.V592fs		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	592					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGTAGGCGAAGCCCCCCCAGAC	0.540													10	292	---	---	---	---					
WDR31	114987	broad.mit.edu	37	9	116079191	116079192	+	Splice_Site	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:116079191_116079192insG	ENST00000374193.4	-	11	1190		c.e11-2		WDR31_ENST00000374195.3_Splice_Site|WDR31_ENST00000341761.4_Splice_Site|WDR31_ENST00000461942.1_Splice_Site	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31											NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						AAAGGCAGGCTGGGGGGGAAAG	0.465													9	107	---	---	---	---					
TNC	3371	broad.mit.edu	37	9	117797538	117797539	+	Frame_Shift_Ins	INS	-	-	G	rs148674204	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr9:117797538_117797539insG	ENST00000350763.4	-	22	6142_6143	c.5731_5732insC	c.(5731-5733)ggcfs	p.G1911fs	TNC_ENST00000537320.1_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000345230.3_Frame_Shift_Ins_p.G1274fs|TNC_ENST00000423613.2_Frame_Shift_Ins_p.G1638fs|TNC_ENST00000535648.1_Frame_Shift_Ins_p.G1456fs|TNC_ENST00000340094.3_Frame_Shift_Ins_p.G1547fs|TNC_ENST00000542877.1_Frame_Shift_Ins_p.G1548fs|TNC_ENST00000341037.4_Frame_Shift_Ins_p.G1729fs|TNC_ENST00000346706.3_Frame_Shift_Ins_p.G1365fs	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1911	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGATGCCCGGGGGGGTCGC	0.475													16	667	---	---	---	---					
FRMD4A	55691	broad.mit.edu	37	10	13696451	13696452	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:13696451_13696452insG	ENST00000357447.2	-	23	3382_3383	c.3014_3015insC	c.(3013-3015)cagfs	p.Q1005fs	FRMD4A_ENST00000358621.4_Frame_Shift_Ins_p.Q990fs|FRMD4A_ENST00000378503.1_Frame_Shift_Ins_p.Q1005fs	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	1005	Ser-rich.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GGGGGCTGCTTGGGGGGGTGGC	0.535													9	75	---	---	---	---					
CUBN	8029	broad.mit.edu	37	10	16877089	16877090	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:16877089_16877090insG	ENST00000377833.4	-	64	10350_10351	c.10285_10286insC	c.(10285-10287)gaafs	p.E3429fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3429	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTGTGGTTCTGGGGGGCTGTG	0.450													10	667	---	---	---	---					
PIP4K2A	5305	broad.mit.edu	37	10	22830827	22830828	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:22830827_22830828insG	ENST00000376573.4	-	8	1169_1170	c.941_942insC	c.(940-942)cgafs	p.R314fs	PIP4K2A_ENST00000323883.7_Frame_Shift_Ins_p.R174fs|PIP4K2A_ENST00000545335.1_Frame_Shift_Ins_p.R255fs	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	314	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGGGGCTATCTGGGGGGGTTCC	0.584													8	190	---	---	---	---					
ZEB1	6935	broad.mit.edu	37	10	31809832	31809833	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:31809832_31809833insG	ENST00000446923.2	+	7	1912_1913	c.1521_1522insG	c.(1519-1524)gaggggfs	p.EG507fs	ZEB1_ENST00000361642.5_Frame_Shift_Ins_p.EG524fs|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Frame_Shift_Ins_p.EG523fs|ZEB1_ENST00000542815.3_Frame_Shift_Ins_p.EG456fs|ZEB1_ENST00000560721.2_Frame_Shift_Ins_p.EG503fs	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	523					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AAAGCTTTGAAGGGGGGGTGAA	0.371													10	295	---	---	---	---					
VSTM4	196740	broad.mit.edu	37	10	50315773	50315774	+	Frame_Shift_Ins	INS	-	-	C	rs150226837	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:50315773_50315774insC	ENST00000332853.3	-	2	345_346	c.322_323insG	c.(322-324)gctfs	p.A108fs	VSTM4_ENST00000298454.3_Frame_Shift_Ins_p.A108fs	NM_001031746.3	NP_001026916.2	Q8IW00	CJ072_HUMAN	V-set and transmembrane domain containing 4	108	Ig-like.					integral to membrane|plasma membrane		p.A108S(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|skin(2)	31						CCTGTAGAGCGCCCCCCGCTGC	0.614													7	185	---	---	---	---					
SEC24C	9632	broad.mit.edu	37	10	75525559	75525560	+	Splice_Site	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:75525559_75525560insC	ENST00000339365.2	+	11	1530_1531	c.1366_splice	c.e11-1	p.VP456_splice	SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000411652.2_Splice_Site_p.VP337_splice|SEC24C_ENST00000345254.4_Splice_Site_p.VP456_splice	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	456					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					TTCCCACAGTTCCCCCCCAGTA	0.510													7	357	---	---	---	---					
SEC31B	25956	broad.mit.edu	37	10	102265153	102265154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:102265153_102265154insG	ENST00000370345.3	-	10	1240_1241	c.1143_1144insC	c.(1141-1146)ccaatgfs	p.M382fs	SEC31B_ENST00000451524.1_Frame_Shift_Ins_p.M382fs	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	382					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		CTAATCCATTTGGGGGGTTTTT	0.490													7	340	---	---	---	---					
PDCD11	22984	broad.mit.edu	37	10	105176292	105176293	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:105176292_105176293insA	ENST00000369797.3	+	13	1657_1658	c.1563_1564insA	c.(1561-1566)ctaaaafs	p.LK521fs		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	521	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGATGACCCTGAAAAAAACCCT	0.485											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	8	394	---	---	---	---					
TDRD1	56165	broad.mit.edu	37	10	115987017	115987018	+	Frame_Shift_Ins	INS	-	-	A			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:115987017_115987018insA	ENST00000251864.2	+	23	3515_3516	c.3362_3363insA	c.(3361-3363)gaafs	p.E1121fs	TDRD1_ENST00000369282.1_Intron|TDRD1_ENST00000369281.2_Frame_Shift_Ins_p.E1007fs|TDRD1_ENST00000369280.1_Intron|TDRD1_ENST00000422662.1_Intron	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1121					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TTTGGTCTGGCAAAAAACATCA	0.361													7	430	---	---	---	---					
TRUB1	142940	broad.mit.edu	37	10	116730191	116730192	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:116730191_116730192insC	ENST00000298746.3	+	5	649_650	c.588_589insC	c.(586-591)gtccccfs	p.VP196fs		NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	196					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		TAATGCAAGTGCCCCCCCTGTA	0.317													10	248	---	---	---	---					
OR51S1	119692	broad.mit.edu	37	11	4870408	4870409	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:4870408_4870409insG	ENST00000322101.2	-	1	105_106	c.30_31insC	c.(28-33)ccatagfs	p.*11fs	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCTGCTATTGGGGGCTATCT	0.495													8	728	---	---	---	---					
OR52B6	340980	broad.mit.edu	37	11	5602545	5602546	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:5602545_5602546insC	ENST00000345043.2	+	1	439_440	c.439_440insC	c.(439-441)cccfs	p.P147fs	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCATCTGCTCCCCCCTGCGA	0.510													11	1499	---	---	---	---					
DCHS1	8642	broad.mit.edu	37	11	6655045	6655046	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:6655045_6655046insG	ENST00000299441.3	-	4	2603_2604	c.2192_2193insC	c.(2191-2193)cctfs	p.P731fs	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	731	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGTAAAAAGTGGGGGGCTGTT	0.604													7	368	---	---	---	---					
SLC43A3	29015	broad.mit.edu	37	11	57185234	57185235	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:57185234_57185235insG	ENST00000395123.2	-	8	961_962	c.657_658insC	c.(655-660)ccactafs	p.L220fs	SLC43A3_ENST00000529554.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000395124.1_Frame_Shift_Ins_p.L220fs|SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000533524.1_Frame_Shift_Ins_p.L233fs|SLC43A3_ENST00000352187.1_Frame_Shift_Ins_p.L220fs	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	220					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						TAGCTGTAGTTGGGGGGCAGTG	0.564													12	224	---	---	---	---					
RAB1B	81876	broad.mit.edu	37	11	66039887	66039888	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:66039887_66039888insG	ENST00000311481.6	+	4	382_383	c.235_236insG	c.(235-237)gggfs	p.G79fs	RAB1B_ENST00000527397.1_Intron|RP11-867G23.3_ENST00000501708.1_lincRNA	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	79	Switch 2 region; required for interaction with REP1/CHM.				protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						CAGCTACTACCGGGGGGCTCAT	0.579													7	186	---	---	---	---					
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)gaafs	p.E132fs	ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897).	alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	AGGGGTTCTTGCCCCCCAGCTC	0.644													9	528	---	---	---	---					
ARRB1	408	broad.mit.edu	37	11	74988494	74988495	+	Splice_Site	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:74988494_74988495insG	ENST00000420843.2	-	9	716		c.e9-2		ARRB1_ENST00000360025.3_Splice_Site|ARRB1_ENST00000393505.4_Splice_Site	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1						G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						GTAATAGATCTGGGGGGCATAA	0.550													10	403	---	---	---	---					
MYO7A	4647	broad.mit.edu	37	11	76873960	76873961	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:76873960_76873961insC	ENST00000409709.3	+	14	1888_1889	c.1616_1617insC	c.(1615-1617)accfs	p.T539fs	MYO7A_ENST00000409619.2_Frame_Shift_Ins_p.T528fs|MYO7A_ENST00000409893.1_Frame_Shift_Ins_p.T539fs|MYO7A_ENST00000458637.2_Frame_Shift_Ins_p.T539fs	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	539	Myosin head-like.				actin filament-based movement|equilibrioception|lysosome organization|sensory perception of sound|visual perception	cytosol|lysosomal membrane|myosin complex|photoreceptor inner segment|photoreceptor outer segment|synapse	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.K542fs*80(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCCAACTACATCCCCCCCAAGA	0.564													9	229	---	---	---	---					
NCAM1	4684	broad.mit.edu	37	11	113076860	113076861	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:113076860_113076861insG	ENST00000316851.7	+	4	556_557	c.556_557insG	c.(556-558)gggfs	p.G186fs	NCAM1_ENST00000401611.2_Frame_Shift_Ins_p.G195fs|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000533760.1_Frame_Shift_Ins_p.G78fs	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	196	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AATCCTGGCACGGGGGGAGATC	0.495													10	1466	---	---	---	---					
CLDN25	644672	broad.mit.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:113650550_113650551insG	ENST00000453129.2	+	1	82_83	c.33_34insG	c.(31-36)ctggggfs	p.LG11fs		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	11						integral to membrane|tight junction	structural molecule activity	p.L14fs*24(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						AAGTCCAGCTCGGGGGGCTACT	0.550													7	200	---	---	---	---					
DDX6	1656	broad.mit.edu	37	11	118629613	118629614	+	Splice_Site	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:118629613_118629614insG	ENST00000264018.4	-	9	1170		c.e9-2		DDX6_ENST00000534980.1_Splice_Site|DDX6_ENST00000526070.2_Splice_Site	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		ATGGGAATTCTGGGGGGGGAGC	0.426			T	IGH@	B-NHL								26	310	---	---	---	---					
OR10G8	219869	broad.mit.edu	37	11	123900396	123900397	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:123900396_123900397insC	ENST00000431524.1	+	1	100_101	c.67_68insC	c.(67-69)cccfs	p.P23fs		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A23T(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGCGCTGGACGCCCCCCTCTTT	0.589													8	1257	---	---	---	---					
CHEK1	1111	broad.mit.edu	37	11	125505377	125505378	+	Frame_Shift_Ins	INS	-	-	A	rs35817404		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:125505377_125505378insA	ENST00000534070.1	+	7	922_923	c.667_668insA	c.(667-669)aaafs	p.K223fs	CHEK1_ENST00000544373.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000524737.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000438015.1_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000427383.2_Frame_Shift_Ins_p.K239fs|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000278916.3_Frame_Shift_Ins_p.K223fs|CHEK1_ENST00000428830.2_Frame_Shift_Ins_p.K223fs	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	223	Protein kinase.		E -> V (in dbSNP:rs35817404).		cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGACTGGAAAGAAAAAAAAACA	0.361								Other conserved DNA damage response genes					14	352	---	---	---	---					
JAM3	83700	broad.mit.edu	37	11	134018467	134018468	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:134018467_134018468insG	ENST00000299106.4	+	7	897_898	c.738_739insG	c.(736-741)atggggfs	p.MG246fs	JAM3_ENST00000441717.3_Frame_Shift_Ins_p.MG195fs|JAM3_ENST00000529443.2_Frame_Shift_Ins_p.MG291fs			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	246					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCGGAATTATTGGGGGGGTTCT	0.485													11	299	---	---	---	---					
C1S	716	broad.mit.edu	37	12	7171652	7171653	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:7171652_7171653insC	ENST00000406697.1	+	8	1101_1102	c.473_474insC	c.(472-474)tccfs	p.S158fs	C1S_ENST00000402681.3_5'UTR|C1S_ENST00000328916.3_Frame_Shift_Ins_p.S158fs|C1S_ENST00000360817.5_Frame_Shift_Ins_p.S158fs			P09871	C1S_HUMAN	complement component 1, s subcomponent	158	EGF-like; calcium-binding.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTCTGCTCCTGCCCCCCGGAAT	0.455													9	297	---	---	---	---					
HEBP1	50865	broad.mit.edu	37	12	13142224	13142225	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:13142224_13142225insC	ENST00000536942.1	-	2	353_354	c.203_204insG	c.(202-204)gacfs	p.D68fs	HEBP1_ENST00000014930.4_Frame_Shift_Ins_p.D68fs			Q9NRV9	HEBP1_HUMAN	heme binding protein 1	68					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TGTCATTGGTGCCCCCCGCATA	0.554													10	678	---	---	---	---					
GRIN2B	2904	broad.mit.edu	37	12	14019043	14019044	+	Frame_Shift_Ins	INS	-	-	G	rs77738206		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:14019043_14019044insG	ENST00000279593.3	-	2	308_309	c.99_100insC	c.(97-102)ccgcatfs	p.H34fs		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	34					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGCCAATGCTGGGGGGGCTCT	0.589													8	158	---	---	---	---					
KLHL42	57542	broad.mit.edu	37	12	27950768	27950769	+	Frame_Shift_Ins	INS	-	-	G	rs145908611	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:27950768_27950769insG	ENST00000381271.2	+	3	1498_1499	c.1187_1188insG	c.(1186-1188)gggfs	p.G396fs		NM_020782.1	NP_065833.1			kelch-like family member 42																		ATCTACATCGTGGGGGGGTGTC	0.594													8	199	---	---	---	---					
NEUROD4	58158	broad.mit.edu	37	12	55421127	55421128	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:55421127_55421128insC	ENST00000242994.3	+	2	1282_1283	c.904_905insC	c.(904-906)cccfs	p.P302fs		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	302					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						TCAGGCTGGTACCCCCCGTTAT	0.465													10	2278	---	---	---	---					
DGKA	1606	broad.mit.edu	37	12	56347513	56347514	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:56347513_56347514insC	ENST00000331886.5	+	24	2623_2624	c.2169_2170insC	c.(2167-2172)ccccccfs	p.PP723fs	DGKA_ENST00000551156.1_Frame_Shift_Ins_p.PP723fs|DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000394147.1_Frame_Shift_Ins_p.PP723fs	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	723					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TCATGGGCCCACCCCCCCGCTC	0.579													21	372	---	---	---	---					
STAT2	6773	broad.mit.edu	37	12	56742816	56742817	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:56742816_56742817insG	ENST00000314128.4	-	17	1490_1491	c.1467_1468insC	c.(1465-1470)ccaggcfs	p.G490fs	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000418572.2_3'UTR|STAT2_ENST00000557235.1_Frame_Shift_Ins_p.G486fs			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	490					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAGGGGGCCTTGGGGGGGTTGG	0.594													8	174	---	---	---	---					
NACA	4666	broad.mit.edu	37	12	57114417	57114418	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:57114417_57114418insG	ENST00000454682.1	-	3	1177_1178	c.896_897insC	c.(895-897)cgafs	p.R299fs	NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Frame_Shift_Ins_p.R299fs|NACA_ENST00000356769.3_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGAAAATCTGGGGGGGTGTT	0.490			T	BCL6	NHL								8	76	---	---	---	---					
LRP1	4035	broad.mit.edu	37	12	57572241	57572242	+	Frame_Shift_Ins	INS	-	-	G	rs139915490		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:57572241_57572242insG	ENST00000243077.3	+	27	4927_4928	c.4461_4462insG	c.(4459-4464)taggggfs	p.*G1487fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1487					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGACGCTGTACGGGGGGGAGGT	0.589													10	228	---	---	---	---					
MDM2	4193	broad.mit.edu	37	12	69233089	69233090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:69233089_69233090insC	ENST00000462284.1	+	11	1256_1257	c.954_955insC	c.(952-957)aaccccfs	p.NP318fs	MDM2_ENST00000517852.1_Intron|MDM2_ENST00000478070.1_3'UTR|MDM2_ENST00000428863.2_Frame_Shift_Ins_p.NP91fs|MDM2_ENST00000393410.1_Frame_Shift_Ins_p.NP64fs|MDM2_ENST00000258148.7_Frame_Shift_Ins_p.NP263fs|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000393412.3_Frame_Shift_Ins_p.NP39fs|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000350057.5_Frame_Shift_Ins_p.NP287fs|MDM2_ENST00000540827.1_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000360430.2_Frame_Shift_Ins_p.NP117fs|MDM2_ENST00000356290.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000348801.2_Frame_Shift_Ins_p.NP86fs|MDM2_ENST00000299252.4_Frame_Shift_Ins_p.NP142fs|MDM2_ENST00000258149.5_Frame_Shift_Ins_p.NP257fs	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	312	Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATGAAATGAATCCCCCCCTTCC	0.426			A		"""sarcoma, glioma, colorectal, other"""								16	400	---	---	---	---					
NAV3	89795	broad.mit.edu	37	12	78400511	78400512	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:78400511_78400512insC	ENST00000397909.2	+	8	1366_1367	c.1193_1194insC	c.(1192-1194)cccfs	p.P398fs	NAV3_ENST00000228327.6_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000266692.7_Frame_Shift_Ins_p.P398fs|NAV3_ENST00000536525.2_Frame_Shift_Ins_p.P398fs			Q8IVL0	NAV3_HUMAN	neuron navigator 3	398						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACTGCTTTACGCCCCCCGCAGC	0.495										HNSCC(70;0.22)			8	289	---	---	---	---					
UHRF1BP1L	23074	broad.mit.edu	37	12	100451839	100451840	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:100451839_100451840insG	ENST00000279907.7	-	14	3427_3428	c.3215_3216insC	c.(3214-3216)cgtfs	p.R1072fs	UHRF1BP1L_ENST00000545232.2_Frame_Shift_Ins_p.R722fs	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1072										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGTTCTAACTGGGGGGGTCTC	0.371													11	338	---	---	---	---					
SPIC	121599	broad.mit.edu	37	12	101876667	101876668	+	Frame_Shift_Ins	INS	-	-	G	rs140414335	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:101876667_101876668insG	ENST00000551346.1	+	5	467_468	c.308_309insG	c.(307-309)aggfs	p.R103fs	SPIC_ENST00000299272.5_Frame_Shift_Ins_p.R103fs			Q8N5J4	SPIC_HUMAN	Spi-C transcription factor (Spi-1/PU.1 related)	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						CTCCAGCAAAAGGGGGGAAAAG	0.396													7	239	---	---	---	---					
PIWIL1	9271	broad.mit.edu	37	12	130839153	130839154	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:130839153_130839154insG	ENST00000245255.3	+	10	1388_1389	c.1116_1117insG	c.(1114-1119)ccggggfs	p.PG372fs		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	372	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GGCGGGGCCCTGGGGGGACACT	0.545													8	193	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1657-1662)atccccfs	p.IP553fs	EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs			Q96L91	EP400_HUMAN	E1A binding protein p400	553					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589													7	406	---	---	---	---					
POLE	5426	broad.mit.edu	37	12	133245023	133245024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:133245023_133245024insG	ENST00000320574.5	-	19	2134_2135	c.2091_2092insC	c.(2089-2094)cctgttfs	p.V698fs	POLE_ENST00000535270.1_Frame_Shift_Ins_p.V671fs	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	698					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTGGGAACAAGGGGGGGAACT	0.599								DNA polymerases (catalytic subunits)					7	168	---	---	---	---					
ATP12A	479	broad.mit.edu	37	13	25262563	25262564	+	Frame_Shift_Ins	INS	-	-	G	rs35191129		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr13:25262563_25262564insG	ENST00000218548.6	+	4	668_669	c.335_336insG	c.(334-336)gggfs	p.G112fs	ATP12A_ENST00000381946.3_Frame_Shift_Ins_p.G112fs	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	112					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.V112V(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	AAGCAGATGGTGGGGGGGTTCT	0.584													17	840	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428													11	484	---	---	---	---					
FREM2	341640	broad.mit.edu	37	13	39358880	39358881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr13:39358880_39358881insG	ENST00000280481.7	+	6	6170_6171	c.5954_5955insG	c.(5953-5955)aggfs	p.R1985fs		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1985					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGCATGCCCATGGGGGGAAGAA	0.446													7	224	---	---	---	---					
KBTBD6	89890	broad.mit.edu	37	13	41705321	41705322	+	Frame_Shift_Ins	INS	-	-	C	rs147771080		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr13:41705321_41705322insC	ENST00000379485.1	-	1	1560_1561	c.1326_1327insG	c.(1324-1329)gggagafs	p.R443fs	KBTBD6_ENST00000499385.2_Frame_Shift_Ins_p.R377fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	443							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		ATAGGGTCTCGCCCCCCCAAAA	0.470													37	417	---	---	---	---					
ATP7B	540	broad.mit.edu	37	13	52532497	52532498	+	Frame_Shift_Ins	INS	-	-	G	rs137853287		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr13:52532497_52532498insG	ENST00000242839.4	-	8	2460_2461	c.2304_2305insC	c.(2302-2307)cctgctfs	p.A769fs	ATP7B_ENST00000418097.2_Frame_Shift_Ins_p.A769fs|ATP7B_ENST00000448424.2_Intron|ATP7B_ENST00000417240.2_Frame_Shift_Ins_p.A41fs|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000344297.5_Intron|ATP7B_ENST00000482841.1_Intron|ATP7B_ENST00000400366.3_Frame_Shift_Ins_p.A658fs	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	769			M -> I (in WD).|M -> R (in WD).|M -> V (in WD).		ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACAAAGAGCATGGGGGGCGTGT	0.520									Wilson disease				8	853	---	---	---	---					
TEP1	7011	broad.mit.edu	37	14	20852646	20852647	+	Frame_Shift_Ins	INS	-	-	C	rs144584331		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:20852646_20852647insC	ENST00000262715.5	-	23	3282_3283	c.3242_3243insG	c.(3241-3243)ggtfs	p.G1081fs	TEP1_ENST00000556935.1_Frame_Shift_Ins_p.G973fs	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1081					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.V1082fs*47(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGCTGCCACACCCCCCCACTC	0.584													13	243	---	---	---	---					
SALL2	6297	broad.mit.edu	37	14	21992275	21992276	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:21992275_21992276insG	ENST00000327430.3	-	2	1880_1881	c.1586_1587insC	c.(1585-1587)cggfs	p.R529fs	SALL2_ENST00000450879.2_Frame_Shift_Ins_p.R392fs|SALL2_ENST00000317492.5_Intron|SALL2_ENST00000538754.1_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	529							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTCACTCCCTGGGGGGGTGTT	0.530													7	186	---	---	---	---					
TRAV3	28690	broad.mit.edu	37	14	22192097	22192098	+	RNA	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:22192097_22192098insC	ENST00000390425.2	+	0	138_139																											GCTGGAAAGGACCCCCCCAATC	0.574													9	220	---	---	---	---					
CTAGE5	4253	broad.mit.edu	37	14	39818089	39818090	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:39818089_39818090insC	ENST00000553728.1	+	27	3974_3975	c.3761_3762insC	c.(3760-3762)tccfs	p.S1254fs	CTAGE5_ENST00000557038.1_Frame_Shift_Ins_p.S639fs|CTAGE5_ENST00000348007.3_Frame_Shift_Ins_p.S676fs|CTAGE5_ENST00000341749.3_Frame_Shift_Ins_p.S707fs|CTAGE5_ENST00000396158.2_Frame_Shift_Ins_p.S724fs|CTAGE5_ENST00000396165.4_Frame_Shift_Ins_p.S690fs|CTAGE5_ENST00000341502.5_Frame_Shift_Ins_p.S719fs|CTAGE5_ENST00000556148.1_Frame_Shift_Ins_p.S644fs|CTAGE5_ENST00000280083.3_Frame_Shift_Ins_p.S719fs|CTAGE5_ENST00000553383.1_3'UTR|CTAGE5_ENST00000553352.1_Frame_Shift_Ins_p.S690fs|RP11-407N17.3_ENST00000603904.1_Frame_Shift_Ins_p.S690fs																							GGACCTCCTTTCCCCCCACCTC	0.535													11	672	---	---	---	---					
SAMD4A	23034	broad.mit.edu	37	14	55226889	55226890	+	Frame_Shift_Ins	INS	-	-	G	rs137951039	byFrequency	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:55226889_55226890insG	ENST00000251091.5	+	5	1228_1229	c.923_924insG	c.(922-924)gggfs	p.G308fs	SAMD4A_ENST00000554335.1_Frame_Shift_Ins_p.G396fs|SAMD4A_ENST00000392067.3_Frame_Shift_Ins_p.G396fs|SAMD4A_ENST00000555192.1_5'UTR|SAMD4A_ENST00000357634.3_Frame_Shift_Ins_p.G395fs	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	396					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						GACATCATCGAGGGGGGCAGCC	0.639													7	607	---	---	---	---					
KCNH5	27133	broad.mit.edu	37	14	63174302	63174303	+	Frame_Shift_Ins	INS	-	-	G	rs35940222		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:63174302_63174303insG	ENST00000322893.7	-	11	3158_3159	c.2890_2891insC	c.(2890-2892)gatfs	p.D964fs	KCNH5_ENST00000420622.2_3'UTR	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	964					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACATGGTATCTGGGGGGGTACT	0.391													10	322	---	---	---	---					
VRTN	55237	broad.mit.edu	37	14	74824462	74824463	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:74824462_74824463insG	ENST00000256362.4	+	2	1217_1218	c.976_977insG	c.(976-978)gggfs	p.G326fs		NM_018228.2	NP_060698.2	Q9H8Y1	VRTN_HUMAN	vertebrae development associated	326					transposition, DNA-mediated		DNA binding|transposase activity	p.V329fs*25(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(15)|ovary(5)|prostate(2)|skin(1)|urinary_tract(1)	41						CAGCTTCCACCGGGGGGGCGTC	0.644													7	133	---	---	---	---					
PACS2	23241	broad.mit.edu	37	14	105847358	105847358	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:105847358delC	ENST00000447393.1	+	12	1365	c.1190delC	c.(1189-1191)acfs	p.T397fs	PACS2_ENST00000325438.8_Frame_Shift_Del_p.T397fs|PACS2_ENST00000547217.1_Frame_Shift_Del_p.T367fs|PACS2_ENST00000430725.2_Frame_Shift_Del_p.T322fs|PACS2_ENST00000458164.2_Frame_Shift_Del_p.T397fs	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	397					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GAGGCCTCCACCCTGGATGTG	0.687													2	4	---	---	---	---					
IGHG2	3501	broad.mit.edu	37	14	106110246	106110247	+	RNA	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr14:106110246_106110247insG	ENST00000390545.2	-	0	370_371																											CCTTGGGTTTTGGGGGGAAGAG	0.619													10	457	---	---	---	---					
OR4M2	390538	broad.mit.edu	37	15	22369023	22369024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:22369023_22369024insG	ENST00000332663.2	+	1	546_547	c.448_449insG	c.(448-450)gggfs	p.G150fs	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R150M(2)|p.R150W(1)		NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TCTCTCCTGGAGGGGGGGCTTC	0.500													13	555	---	---	---	---					
RYR3	6263	broad.mit.edu	37	15	34015000	34015001	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:34015000_34015001insG	ENST00000389232.4	+	44	6774_6775	c.6704_6705insG	c.(6703-6705)gggfs	p.G2235fs	RYR3_ENST00000415757.3_Frame_Shift_Ins_p.G2235fs	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2235	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGCGGGGTGAGGGGGGAAACG	0.584													9	373	---	---	---	---					
BUB1B	701	broad.mit.edu	37	15	40477505	40477506	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:40477505_40477506insC	ENST00000287598.6	+	7	1086_1087	c.891_892insC	c.(889-894)gcccccfs	p.AP297fs	BUB1B_ENST00000412359.3_Frame_Shift_Ins_p.AP311fs	NM_001211.5	NP_001202.4	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	297					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CATGGATAGCACCCCCCATGCC	0.475			"""Mis, N, F, S"""			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				8	628	---	---	---	---					
EIF3J	8669	broad.mit.edu	37	15	44829561	44829562	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:44829561_44829562insG	ENST00000261868.5	+	2	221_222	c.83_84insG	c.(82-84)gggfs	p.G28fs	EIF3J_ENST00000424492.3_Frame_Shift_Ins_p.G28fs|EIF3J_ENST00000535391.1_Frame_Shift_Ins_p.G28fs	NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN	eukaryotic translation initiation factor 3, subunit J	28	Sufficient for interaction with EIF3B.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GTGCGGAAGGTGGGGGGCGGCG	0.733													3	3	---	---	---	---					
RFX7	64864	broad.mit.edu	37	15	56386880	56386881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:56386880_56386881insG	ENST00000423270.1	-	9	3044_3045	c.3045_3046insC	c.(3043-3048)ccgcccfs	p.P1016fs	RFX7_ENST00000422057.1_Frame_Shift_Ins_p.P919fs|RFX7_ENST00000317318.6_Frame_Shift_Ins_p.P1016fs|RFX7_ENST00000559447.2_Frame_Shift_Ins_p.P919fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	919					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TCAACAGGGCTGGGGGGGACAC	0.500													7	170	---	---	---	---					
PEAK1	79834	broad.mit.edu	37	15	77471653	77471654	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:77471653_77471654insG	ENST00000560626.2	-	4	3090_3091	c.2615_2616insC	c.(2614-2616)cccfs	p.P872fs	PEAK1_ENST00000312493.4_Frame_Shift_Ins_p.P872fs|PEAK1_ENST00000558305.1_Frame_Shift_Ins_p.P872fs			Q9H792	PEAK1_HUMAN	pseudopodium-enriched atypical kinase 1	872	Pro-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TAGAGCGTGGCGGGGGAAAGGG	0.535													7	368	---	---	---	---					
IGF1R	3480	broad.mit.edu	37	15	99251108	99251109	+	Frame_Shift_Ins	INS	-	-	G	rs121912426		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr15:99251108_99251109insG	ENST00000268035.6	+	2	1023_1024	c.412_413insG	c.(412-414)gggfs	p.G138fs	IGF1R_ENST00000558762.1_Frame_Shift_Ins_p.G138fs	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	138			R -> Q (in IGF1RES; has decreased IGF1R function).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GAACATTACTCGGGGGGCCATC	0.510													7	355	---	---	---	---					
NOMO1	23420	broad.mit.edu	37	16	14980694	14980695	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr16:14980694_14980695insC	ENST00000287667.7	+	28	3470_3471	c.3299_3300insC	c.(3298-3300)tccfs	p.S1100fs		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	1100						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						TTCTTCCATTTCCCCCCACTGC	0.475													7	589	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													7	306	---	---	---	---					
DNAH3	55567	broad.mit.edu	37	16	21063027	21063028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr16:21063027_21063028insG	ENST00000261383.3	-	29	4200_4201	c.4201_4202insC	c.(4201-4203)gctfs	p.A1401fs	DNAH3_ENST00000415178.1_Frame_Shift_Ins_p.A1401fs	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1401	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCACCAGCCGGGGGGAGTTT	0.569													11	513	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30715515	30715516	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr16:30715515_30715516insC	ENST00000262518.4	+	4	570_571	c.185_186insC	c.(184-186)gccfs	p.A62fs	SRCAP_ENST00000344771.4_Frame_Shift_Ins_p.A62fs|SRCAP_ENST00000395059.2_Frame_Shift_Ins_p.A62fs	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	62					interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGACCTCCAGGCCCCCCAGATG	0.624													8	138	---	---	---	---					
SRCAP	10847	broad.mit.edu	37	16	30733909	30733910	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr16:30733909_30733910insG	ENST00000262518.4	+	23	4117_4118	c.3732_3733insG	c.(3730-3735)gcggggfs	p.AG1244fs	SRCAP_ENST00000344771.4_Intron|SRCAP_ENST00000395059.2_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1244	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCGTGTCAGCAGGGGGGCAGCA	0.614													13	548	---	---	---	---					
RBL2	5934	broad.mit.edu	37	16	53504347	53504348	+	Frame_Shift_Ins	INS	-	-	G	rs67487800		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr16:53504347_53504348insG	ENST00000262133.6	+	16	2435_2436	c.2298_2299insG	c.(2296-2301)gtggggfs	p.VG766fs	RBL2_ENST00000544545.1_Intron|RBL2_ENST00000379935.4_3'UTR	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	766	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						AAGTCAATGTTGGGGGGCAGGC	0.480													11	431	---	---	---	---					
C16orf70	80262	broad.mit.edu	37	16	67180988	67180989	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr16:67180988_67180989insC	ENST00000219139.3	+	16	1411_1412	c.1223_1224insC	c.(1222-1224)gccfs	p.A408fs	C16orf70_ENST00000569600.1_Frame_Shift_Ins_p.A408fs	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	408								p.R411fs*4(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ACCCTGTATGGCCCCCCCAGGC	0.594													13	209	---	---	---	---					
KCTD19	146212	broad.mit.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cctggtfs	p.G768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574													7	107	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8409750	8409751	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:8409750_8409751insG	ENST00000360416.3	-	27	3409_3410	c.3271_3272insC	c.(3271-3273)cgafs	p.R1091fs	MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1076fs|MYH10_ENST00000269243.4_Frame_Shift_Ins_p.R1060fs|MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1081fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCCCCGTCGAGTTTTCTTTTG	0.515													8	267	---	---	---	---					
PRPSAP2	5636	broad.mit.edu	37	17	18832235	18832236	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:18832235_18832236insC	ENST00000268835.2	+	11	1199_1200	c.916_917insC	c.(916-918)cccfs	p.P306fs	PRPSAP2_ENST00000542013.1_Intron|PRPSAP2_ENST00000419071.2_Frame_Shift_Ins_p.P266fs|PRPSAP2_ENST00000536323.1_Frame_Shift_Ins_p.P220fs	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	306					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						GTCTTCTGACGCCCCCCGGCGG	0.495													10	437	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27959374	27959375	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:27959374_27959375insG	ENST00000269033.3	-	15	2907_2908	c.2756_2757insC	c.(2755-2757)cgafs	p.R919fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.R946fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	919					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGAATGTTCTGGGGGGGCTTC	0.480													15	505	---	---	---	---					
SSH2	85464	broad.mit.edu	37	17	27963294	27963295	+	Frame_Shift_Ins	INS	-	-	G	rs35554312		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:27963294_27963295insG	ENST00000269033.3	-	14	2023_2024	c.1872_1873insC	c.(1870-1875)cctgtcfs	p.V625fs	SSH2_ENST00000540801.1_Frame_Shift_Ins_p.V652fs|RP11-68I3.2_ENST00000581474.1_RNA	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	625					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCAGGGGACATGGGGGGGTCTT	0.470													7	157	---	---	---	---					
NF1	4763	broad.mit.edu	37	17	29576097	29576098	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:29576097_29576098insC	ENST00000358273.4	+	30	4453_4454	c.4070_4071insC	c.(4069-4071)tccfs	p.S1357fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.S1357fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1357	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTCAGAATTCCCCCCTCAAC	0.406			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			8	442	---	---	---	---					
HNF1B	6928	broad.mit.edu	37	17	36059173	36059174	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:36059173_36059174insG	ENST00000225893.4	-	8	1922_1923	c.1561_1562insC	c.(1561-1563)gtafs	p.V521fs	HNF1B_ENST00000561193.1_Frame_Shift_Ins_p.V495fs|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000427275.2_Intron	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	521					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGGAATACTGGGGGGGTTCC	0.515													8	234	---	---	---	---					
KRT26	353288	broad.mit.edu	37	17	38926341	38926342	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:38926341_38926342insC	ENST00000335552.4	-	4	762_763	c.714_715insG	c.(712-717)ggacgtfs	p.R239fs		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	239	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ACGTTCACGTTCCCCCCAGCTG	0.480													8	549	---	---	---	---					
CNTNAP1	8506	broad.mit.edu	37	17	40843872	40843873	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:40843872_40843873insC	ENST00000264638.4	+	16	2610_2611	c.2393_2394insC	c.(2392-2394)tccfs	p.S798fs	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	798					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCACTACGCTTCCCCCCAATCC	0.564													7	718	---	---	---	---					
CA10	56934	broad.mit.edu	37	17	50008356	50008357	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:50008356_50008357insC	ENST00000451037.2	-	3	1212_1213	c.272_273insG	c.(271-273)gagfs	p.E91fs	CA10_ENST00000442502.2_Frame_Shift_Ins_p.E91fs|CA10_ENST00000285273.4_Frame_Shift_Ins_p.E91fs|CA10_ENST00000340813.6_Frame_Shift_Ins_p.E97fs|CA10_ENST00000570565.1_Frame_Shift_Ins_p.E16fs	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	91					brain development			p.G91V(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			TTACCTTCCTGCCCCCCGTGTT	0.490													10	1259	---	---	---	---					
MARCH10	162333	broad.mit.edu	37	17	60814265	60814266	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:60814265_60814266insC	ENST00000544856.2	-	7	1338_1339	c.960_961insG	c.(958-963)ggcatcfs	p.I321fs	MARCH10_ENST00000456609.2_Frame_Shift_Ins_p.I322fs|MARCH10_ENST00000583600.1_Frame_Shift_Ins_p.I360fs|MARCH10_ENST00000311269.5_Frame_Shift_Ins_p.I322fs|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	322							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GGGGTCGATGTCCCCCCAAATC	0.460													9	1045	---	---	---	---					
SLC16A6	9120	broad.mit.edu	37	17	66270149	66270150	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:66270149_66270150insC	ENST00000327268.4	-	4	458_459	c.294_295insG	c.(292-297)ggtactfs	p.T99fs	SLC16A6_ENST00000580666.1_Frame_Shift_Ins_p.T99fs|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	99						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTGACAAGTAGCCCCCCCAACA	0.535													8	97	---	---	---	---					
ABCA6	23460	broad.mit.edu	37	17	67083603	67083604	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:67083603_67083604insG	ENST00000284425.2	-	29	3883_3884	c.3709_3710insC	c.(3709-3711)aagfs	p.K1237fs	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1237					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATCTCTACTTTGGGGGGAAATT	0.376													10	1032	---	---	---	---					
FAM104A	84923	broad.mit.edu	37	17	71223356	71223357	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:71223356_71223357insG	ENST00000405159.3	-	2	332_333	c.268_269insC	c.(268-270)gacfs	p.D90fs	FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000403627.3_Frame_Shift_Ins_p.D90fs	NM_001098832.1	NP_001092302.1	Q969W3	F104A_HUMAN	family with sequence similarity 104, member A	90										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			LUSC - Lung squamous cell carcinoma(166;0.197)			TCTTTTGGTCTGGGGGGGAAGA	0.416													9	251	---	---	---	---					
MRPS7	51081	broad.mit.edu	37	17	73258564	73258565	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:73258564_73258565insC	ENST00000579002.1	+	1	572_573	c.157_158insC	c.(157-159)cccfs	p.P53fs	MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	0					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCTCCTCCTTTCCCCCCCTCCC	0.554													10	132	---	---	---	---					
CNN2	1265	broad.mit.edu	37	19	1037646	1037646	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:1037646delC	ENST00000263097.4	+	7	1040	c.677delC	c.(676-678)acfs	p.T226fs	CNN2_ENST00000565096.2_Frame_Shift_Del_p.T215fs|CNN2_ENST00000348419.3_Frame_Shift_Del_p.T187fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.T247fs|CNN2_ENST00000606983.1_3'UTR	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	226					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTCCCGGGACCCGGCGGCAC	0.632													8	54	---	---	---	---					
ZNF878	729747	broad.mit.edu	37	19	12155708	12155709	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:12155708_12155709insT	ENST00000602107.1	-	5	647_648	c.648_649insA	c.(646-651)aacctafs	p.NL216fs	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|ZNF878_ENST00000547628.1_Frame_Shift_Ins_p.NL169fs|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CATTCATAGGGTTTTTTTGCAG	0.411													7	399	---	---	---	---					
CTC-559E9.6	0	broad.mit.edu	37	19	19944259	19944260	+	RNA	DEL	GT	GT	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:19944259_19944260delGT	ENST00000591884.1	+	0	393																											TGGTAAAAACGTGTGTGTGTGT	0.426													9	241	---	---	---	---					
CTC-513N18.6	0	broad.mit.edu	37	19	20634038	20634039	+	RNA	DEL	TG	TG	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:20634038_20634039delTG	ENST00000598131.1	+	0	160																											TTAGTAAAAATGTGTGTGTGTG	0.401													14	118	---	---	---	---					
SUPT5H	6829	broad.mit.edu	37	19	39966719	39966720	+	Splice_Site	INS	-	-	G	rs111683994		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:39966719_39966720insG	ENST00000599117.1	+	30	3391		c.e30-1		SUPT5H_ENST00000598725.1_Splice_Site|SUPT5H_ENST00000402194.2_Splice_Site|SUPT5H_ENST00000359191.6_Splice_Site|SUPT5H_ENST00000432763.2_Splice_Site			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)						cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCATCCTCCAGGGGGGCATGT	0.564													7	261	---	---	---	---					
AXL	558	broad.mit.edu	37	19	41743932	41743933	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:41743932_41743933insC	ENST00000301178.4	+	7	1057_1058	c.867_868insC	c.(865-870)gtccccfs	p.VP289fs	AXL_ENST00000359092.3_Frame_Shift_Ins_p.VP289fs|AXL_ENST00000593513.1_Frame_Shift_Ins_p.VP21fs	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713.2	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						AAGCATCCGTGCCCCCCCATCA	0.649													11	237	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43439519	43439520	+	RNA	INS	-	-	C	rs59911953	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:43439519_43439520insC	ENST00000446844.3	-	0	520				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AATGACCCCTGCCCCCCAACAC	0.515													12	1058	---	---	---	---					
CARD8	22900	broad.mit.edu	37	19	48737669	48737670	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:48737669_48737670insC	ENST00000391898.3	-	3	382_383	c.340_341insG	c.(340-342)catfs	p.H114fs	CARD8_ENST00000359009.4_Frame_Shift_Ins_p.I23fs|CARD8_ENST00000357778.5_5'UTR|CARD8_ENST00000520153.1_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000447740.2_Frame_Shift_Ins_p.H64fs|CARD8_ENST00000519940.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000521613.1_Frame_Shift_Ins_p.H64fs|ZNF114_ENST00000597695.1_Intron|CARD8_ENST00000520753.1_Frame_Shift_Ins_p.H114fs|CARD8_ENST00000520015.1_Frame_Shift_Ins_p.H114fs	NM_001184900.1	NP_001171829.1	Q9Y2G2	CARD8_HUMAN	caspase recruitment domain family, member 8	0					negative regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion	cytoplasm|nucleus	caspase activator activity|NACHT domain binding|protein homodimerization activity			endometrium(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	15		all_lung(116;0.000112)|Lung NSC(112;0.000192)|all_epithelial(76;0.000349)|all_neural(266;0.0228)|Ovarian(192;0.113)|Prostate(7;0.184)		OV - Ovarian serous cystadenocarcinoma(262;0.000112)|all cancers(93;0.000293)|Epithelial(262;0.0129)|GBM - Glioblastoma multiforme(486;0.0336)		CCTGGGAATGTCCCCCCCAGAT	0.436													12	341	---	---	---	---					
TSKS	60385	broad.mit.edu	37	19	50243063	50243064	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:50243063_50243064insG	ENST00000246801.3	-	11	1830_1831	c.1748_1749insC	c.(1747-1749)caafs	p.Q583fs	TSKS_ENST00000358830.3_Frame_Shift_Ins_p.Q383fs	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	583							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCCTGTTTTGGGGGGGTTCC	0.545													12	246	---	---	---	---					
KLK1	3816	broad.mit.edu	37	19	51326962	51326963	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:51326962_51326963insC	ENST00000301420.2	-	1	77_78	c.42_43insG	c.(40-45)ggctggfs	p.W15fs	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	15					proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCTCACCAGTCCCCCCCAGGG	0.653													14	229	---	---	---	---					
PCED1A	64773	broad.mit.edu	37	20	2816203	2816204	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:2816203_2816204insC	ENST00000360652.2	-	8	1771_1772	c.1269_1270insG	c.(1267-1272)ggcctgfs	p.L424fs	PCED1A_ENST00000356872.3_Frame_Shift_Ins_p.L373fs	NM_022760.3	NP_073597.2			PC-esterase domain containing 1A																		TGCCTGCAGGGCCCCCCCATTC	0.624													7	100	---	---	---	---					
PLCB1	23236	broad.mit.edu	37	20	8782771	8782772	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:8782771_8782772insC	ENST00000378641.3	+	32	3967_3968	c.3492_3493insC	c.(3490-3495)acccccfs	p.TP1164fs	PLCB1_ENST00000378637.2_Frame_Shift_Ins_p.TP1164fs|PLCB1_ENST00000338037.6_Intron	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	0					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CCAACTTTACTCCCCCCAACCC	0.540													7	200	---	---	---	---					
CST1	1469	broad.mit.edu	37	20	23729753	23729754	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:23729753_23729754insC	ENST00000304749.2	-	2	311_312	c.241_242insG	c.(241-243)gaafs	p.E81fs	CST1_ENST00000398402.1_Frame_Shift_Ins_p.E81fs	NM_001898.2	NP_001889.2	P01037	CYTN_HUMAN	cystatin SN	81						extracellular region	cysteine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(1)|lung(8)|ovary(1)|stomach(1)|urinary_tract(1)	13	Lung NSC(19;0.0676)|all_lung(19;0.148)					GAAGTAATTCACCCCCCCAACG	0.554													24	459	---	---	---	---					
ASXL1	171023	broad.mit.edu	37	20	31022441	31022442	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:31022441_31022442insG	ENST00000375687.4	+	13	2350_2351	c.1926_1927insG	c.(1924-1929)ggggggfs	p.GG642fs	ASXL1_ENST00000306058.5_Frame_Shift_Ins_p.GG637fs	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	642	Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.G643fs*15(5)|p.A640fs*14(2)|p.T639_G659>PPWD(1)|p.A637fs*13(1)|p.A640_S664>PCSGG(1)|p.T639fs*14(1)|p.T639fs*19(1)|p.T639_P647>PPSDGS(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTGCCATCGGAGGGGGGGGTGG	0.693			"""F, N, Mis"""		"""MDS, CMML"""								2	4	---	---	---	---					
SLPI	6590	broad.mit.edu	37	20	43881730	43881731	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:43881730_43881731insG	ENST00000338380.2	-	3	326_327	c.306_307insC	c.(304-309)ccatttfs	p.F103fs		NM_003064.2	NP_003055.1	P03973	SLPI_HUMAN	secretory leukocyte peptidase inhibitor	103	Elastase inhibitory domain.|WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			lung(3)|ovary(1)	4		Myeloproliferative disorder(115;0.0122)				TCACAGAAATTGGGGGGGTTAA	0.535													21	388	---	---	---	---					
KCNB1	3745	broad.mit.edu	37	20	47989771	47989772	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:47989771_47989772insG	ENST00000371741.4	-	2	2491_2492	c.2325_2326insC	c.(2323-2328)ccaaagfs	p.PK775fs		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	775					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGAGGCTTTTGGGGGGGCTGG	0.545													31	787	---	---	---	---					
PDE9A	5152	broad.mit.edu	37	21	44171249	44171250	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr21:44171249_44171250insT	ENST00000291539.6	+	9	737_738	c.677_678insT	c.(676-678)attfs	p.I226fs	PDE9A_ENST00000328862.6_Frame_Shift_Ins_p.I200fs|PDE9A_ENST00000398224.3_Frame_Shift_Ins_p.I99fs|PDE9A_ENST00000398232.3_Frame_Shift_Ins_p.I159fs|PDE9A_ENST00000398234.3_Frame_Shift_Ins_p.I125fs|PDE9A_ENST00000398229.3_Frame_Shift_Ins_p.I92fs|PDE9A_ENST00000349112.3_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335512.4_Frame_Shift_Ins_p.I166fs|PDE9A_ENST00000335440.6_Frame_Shift_Ins_p.I124fs|PDE9A_ENST00000398227.3_Frame_Shift_Ins_p.I66fs|PDE9A_ENST00000380328.2_Frame_Shift_Ins_p.I173fs|PDE9A_ENST00000398236.3_Frame_Shift_Ins_p.I140fs|PDE9A_ENST00000539837.1_Frame_Shift_Ins_p.I98fs|PDE9A_ENST00000398225.3_Frame_Shift_Ins_p.I185fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	226					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						TGTAAGTACAGTTTTTTGGATA	0.520													7	709	---	---	---	---					
CECR2	27443	broad.mit.edu	37	22	18022285	18022286	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr22:18022285_18022286insC	ENST00000262608.8	+	15	2390_2391	c.2390_2391insC	c.(2389-2391)gccfs	p.A797fs	CECR2_ENST00000400573.4_Frame_Shift_Ins_p.A796fs|CECR2_ENST00000400585.2_Frame_Shift_Ins_p.A655fs	NM_031413.3	NP_113601.2	Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2	838					chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGACCACCTGTCCCCCCCAACC	0.609													7	237	---	---	---	---					
ASPHD2	57168	broad.mit.edu	37	22	26838458	26838459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr22:26838458_26838459insG	ENST00000215906.5	+	3	1358_1359	c.920_921insG	c.(919-921)gggfs	p.G307fs		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	307					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GAGCTGGTGGTGGGGGGAGAGC	0.559													7	269	---	---	---	---					
EP300	2033	broad.mit.edu	37	22	41574678	41574679	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr22:41574678_41574679insC	ENST00000263253.7	+	31	8182_8183	c.6963_6964insC	c.(6961-6966)caccccfs	p.HP2321fs	RP1-85F18.6_ENST00000415054.1_RNA|RP1-85F18.5_ENST00000420537.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2321					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CACAGTCCCAGCCCCCCCACTC	0.609			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				7	136	---	---	---	---					
TCF20	6942	broad.mit.edu	37	22	42606574	42606575	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr22:42606574_42606575insT	ENST00000359486.3	-	1	4873_4874	c.4737_4738insA	c.(4735-4740)aaagagfs	p.E1580fs	TCF20_ENST00000335626.4_Frame_Shift_Ins_p.E1580fs	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.Q1580fs*32(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTGCCTCTGTTTTTTTGGCT	0.535													7	237	---	---	---	---					
TBC1D22A	25771	broad.mit.edu	37	22	47188443	47188444	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr22:47188443_47188444insC	ENST00000337137.4	+	2	255_256	c.89_90insC	c.(88-90)cccfs	p.P30fs	TBC1D22A_ENST00000355704.3_Intron|TBC1D22A_ENST00000406733.1_5'UTR|TBC1D22A_ENST00000407381.3_Frame_Shift_Ins_p.P30fs|TBC1D22A_ENST00000472791.1_3'UTR|TBC1D22A_ENST00000380995.1_5'UTR	NM_014346.2	NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	30						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGTGCCCAGCACCCCCCCTTTG	0.569													22	409	---	---	---	---					
CA5B	11238	broad.mit.edu	37	X	15790675	15790676	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:15790675_15790676insG	ENST00000318636.3	+	4	533_534	c.397_398insG	c.(397-399)gggfs	p.G133fs	CA5B_ENST00000454127.2_Frame_Shift_Ins_p.G133fs	NM_007220.3	NP_009151.1	Q9Y2D0	CAH5B_HUMAN	carbonic anhydrase VB, mitochondrial	133					one-carbon metabolic process	mitochondrion	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(2)|lung(3)|prostate(1)|stomach(2)	9	Hepatocellular(33;0.183)					CCATTTTCACTGGGGGGCCATC	0.495													11	517	---	---	---	---					
TFE3	7030	broad.mit.edu	37	X	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)gccfs	p.A482fs	TFE3_ENST00000493583.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""								15	133	---	---	---	---					
PHF8	23133	broad.mit.edu	37	X	54011405	54011407	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:54011405_54011407delCTC	ENST00000338154.6	-	18	2887_2889	c.2383_2385delGAG	c.(2383-2385)del	p.E795del	PHF8_ENST00000357988.5_In_Frame_Del_p.E831del|PHF8_ENST00000338946.6_In_Frame_Del_p.E694del|PHF8_ENST00000322659.8_In_Frame_Del_p.E778del	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													7	441	---	---	---	---					
OPHN1	4983	broad.mit.edu	37	X	67283963	67283964	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:67283963_67283964insG	ENST00000355520.5	-	21	2531_2532	c.1890_1891insC	c.(1888-1893)ccagccfs	p.A631fs	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	631	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TGTGGTGGCTTGGGGGGTTCTA	0.475													10	367	---	---	---	---					
FRMPD3	84443	broad.mit.edu	37	X	106845402	106845403	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:106845402_106845403insG	ENST00000276185.4	+	16	4232_4233	c.4232_4233insG	c.(4231-4233)tggfs	p.W1411fs				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1411						cytoskeleton				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ACGTGTGCCTCGGGGGGCGAGT	0.609													8	215	---	---	---	---					
IRS4	8471	broad.mit.edu	37	X	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)gaafs	p.E591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													10	101	---	---	---	---					
MAP7D3	79649	broad.mit.edu	37	X	135314193	135314194	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:135314193_135314194insG	ENST00000316077.9	-	8	1142_1143	c.922_923insC	c.(922-924)ggtfs	p.G308fs	MAP7D3_ENST00000370661.1_Frame_Shift_Ins_p.G273fs|MAP7D3_ENST00000370663.5_Frame_Shift_Ins_p.G290fs	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGCA	0.535													16	360	---	---	---	---					
GPR112	139378	broad.mit.edu	37	X	135455155	135455156	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:135455155_135455156insG	ENST00000394143.1	+	15	7999_8000	c.7708_7709insG	c.(7708-7710)gggfs	p.G2570fs	GPR112_ENST00000394141.1_Frame_Shift_Ins_p.G2365fs|GPR112_ENST00000370652.1_Frame_Shift_Ins_p.G2570fs|GPR112_ENST00000287534.4_Frame_Shift_Ins_p.G2368fs|GPR112_ENST00000412101.1_Frame_Shift_Ins_p.G2365fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2570					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R2570L(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GGCTGTGCTGCGGGGGGACCAC	0.530													18	1612	---	---	---	---					
CSAG1	158511	broad.mit.edu	37	X	151908802	151908803	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chrX:151908802_151908803insG	ENST00000370291.2	+	4	321_322	c.41_42insG	c.(40-42)cggfs	p.R14fs	CSAG1_ENST00000452779.2_Frame_Shift_Ins_p.R14fs|CSAG1_ENST00000370287.3_Frame_Shift_Ins_p.R14fs			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	14										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ttCACTGTCCTGGGGGAAGCTC	0.500													11	621	---	---	---	---					
PDE4DIP	9659	broad.mit.edu	37	1	144863324	144863324	+	Frame_Shift_Del	DEL	G	G	-			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr1:144863324delG	ENST00000369359.4	-	40	6525	c.6487delC	c.(6487-6489)tgfs	p.L2163fs	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Frame_Shift_Del_p.L2027fs|PDE4DIP_ENST00000369354.3_Frame_Shift_Del_p.L2027fs|RP4-791M13.4_ENST00000532137.1_RNA|PDE4DIP_ENST00000313382.9_Frame_Shift_Del_p.L1921fs|PDE4DIP_ENST00000530740.1_Frame_Shift_Del_p.L2112fs			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2027					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ATACCTTTCAGCCCCTTCTTG	0.488			T	PDGFRB	MPD								7	505	---	---	---	---					
SEC24D	9871	broad.mit.edu	37	4	119745869	119745870	+	Frame_Shift_Ins	INS	-	-	G	rs141446866		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr4:119745869_119745870insG	ENST00000379735.5	-	3	424_425	c.153_154insC	c.(151-156)acccacfs	p.H52fs	SEC24D_ENST00000280551.6_Frame_Shift_Ins_p.H52fs|SEC24D_ENST00000419654.2_5'UTR	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	52	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CCCCTAGTGGCGGTGGCCCCCA	0.540													10	336	---	---	---	---					
PODXL	5420	broad.mit.edu	37	7	131241030	131241035	+	In_Frame_Del	DEL	GGCGAC	GGCGAC	-	rs11277659		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr7:131241030_131241035delGGCGAC	ENST00000541194.1	-	1	341_346	c.84_89delGTCGCC	c.(82-90)ccc>cc	p.PSP28del	PODXL_ENST00000378555.3_In_Frame_Del_p.PSP28del|PODXL_ENST00000465001.1_Intron|PODXL_ENST00000537928.1_In_Frame_Del_p.PSP28del|PODXL_ENST00000322985.9_In_Frame_Del_p.PSP28del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	28					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle		p.P30_S31delPS(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ATTCTGGGAGggcgacggcgacggcg	0.748													2	4	---	---	---	---					
MKI67	4288	broad.mit.edu	37	10	129902204	129902205	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr10:129902204_129902205delTG	ENST00000368654.3	-	13	8274_8275	c.7899_7900delCA	c.(7897-7902)caaafs	p.HK2633fs	MKI67_ENST00000368653.3_Frame_Shift_Del_p.HK2273fs	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2633	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCTGGTTCTTTGTGTGTGTGTG	0.500													10	221	---	---	---	---					
UBQLN3	50613	broad.mit.edu	37	11	5529918	5529920	+	In_Frame_Del	DEL	TGG	TGG	-	rs2234451	byFrequency	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:5529918_5529920delTGG	ENST00000311659.4	-	2	1016_1018	c.869_871delCCA	c.(868-873)agc>a	p.TS290del	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	290			T -> S (in dbSNP:rs2234451).							NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGGTTGGCTGGTGGTGGTGGT	0.537													7	340	---	---	---	---					
FAM111B	374393	broad.mit.edu	37	11	58892377	58892377	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:58892377delA	ENST00000343597.3	+	4	998	c.807delA	c.(805-807)tcfs	p.S269fs	FAM111B_ENST00000411426.1_Frame_Shift_Del_p.S239fs|FAM111B_ENST00000529618.1_Frame_Shift_Del_p.S239fs	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	269							catalytic activity	p.A273fs*9(1)|p.K272delK(1)|p.A273fs*26(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						TGGACATTTCAAAAAAAAAAG	0.313													7	79	---	---	---	---					
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr11:104879687delT	ENST00000393141.2	-	2	98	c.67delA	c.(67-69)ggfs	p.R24fs	CASP5_ENST00000260315.3_Frame_Shift_Del_p.R11fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_5'UTR	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388													11	131	---	---	---	---					
PDE3A	5139	broad.mit.edu	37	12	20522722	20522723	+	Frame_Shift_Ins	INS	-	-	G	rs149604740	byFrequency	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr12:20522722_20522723insG	ENST00000359062.3	+	1	544_545	c.504_505insG	c.(502-507)tgggggfs	p.WG168fs	RP11-284H19.1_ENST00000535755.1_RNA	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	168					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCGCCTGCTGCGGGGGGGAAGC	0.693													14	29	---	---	---	---					
PABPC3	5042	broad.mit.edu	37	13	25671333	25671333	+	Frame_Shift_Del	DEL	A	A	-			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr13:25671333delA	ENST00000281589.3	+	1	1034	c.997delA	c.(997-999)aafs	p.K333fs		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	333	RRM 4.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.F335fs*19(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TGGTCGCAGCAAAGGGTTTGG	0.428													7	298	---	---	---	---					
LOC101927755	101927755	broad.mit.edu	37	17	58050841	58050841	+	RNA	DEL	T	T	-	rs74362551		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr17:58050841delT	ENST00000586209.1	+	0	158																											acagggtttcTTTTTTTTTTT	0.413													9	10	---	---	---	---					
CTC-513N18.6	0	broad.mit.edu	37	19	20634038	20634039	+	RNA	DEL	TG	TG	-			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr19:20634038_20634039delTG	ENST00000598131.1	+	0	160																											TTAGTAAAAATGTGTGTGTGTG	0.401													9	75	---	---	---	---					
KIZ-AS1	101929591	broad.mit.edu	37	20	21142454	21142455	+	RNA	INS	-	-	C	rs45603533	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:21142454_21142455insC	ENST00000591761.1	-	0	5142				PLK1S1_ENST00000457464.1_RNA|RP5-872K7.7_ENST00000425746.2_RNA																							AAAAAAAAAAACCCCACCTAAT	0.376													11	28	---	---	---	---					
DNMT3B	1789	broad.mit.edu	37	20	31384616	31384617	+	Frame_Shift_Ins	INS	-	-	G	rs150851562	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:31384616_31384617insG	ENST00000328111.2	+	13	1639_1640	c.1318_1319insG	c.(1318-1320)gaafs	p.E440fs	DNMT3B_ENST00000353855.2_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000344505.4_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000456297.2_Frame_Shift_Ins_p.E344fs|DNMT3B_ENST00000375623.4_Splice_Site|DNMT3B_ENST00000443239.3_Frame_Shift_Ins_p.E378fs|DNMT3B_ENST00000348286.2_Frame_Shift_Ins_p.E420fs|DNMT3B_ENST00000201963.3_Frame_Shift_Ins_p.E432fs	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	440	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTCTTGTGGCAGGAAAAACCCC	0.559													7	327	---	---	---	---					
MIR646HG	284757	broad.mit.edu	37	20	58889651	58889662	+	RNA	DEL	CATTCTCCCATT	CATTCTCCCATT	-	rs117834183	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01D-1040-01								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	22922a1e-d7f6-442d-9a4d-79721ee3b50f	g.chr20:58889651_58889662delCATTCTCCCATT	ENST00000432910.1	+	0	332					NR_046099.1																						tccatccatccattctcccattcatccatcct	0.538													2	4	---	---	---	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													8	385	---	---	---	---					
TARBP1	6894	broad.mit.edu	37	1	234556531	234556532	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:234556531_234556532insT	ENST00000040877.1	-	21	3470_3471	c.3471_3472insA	c.(3469-3474)aagctafs	p.L1158fs		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1158					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			ACATAGTAGCGTTTTTTGGACT	0.366													7	594	---	---	---	---					
AC007879.5	0	broad.mit.edu	37	2	208259255	208259255	+	RNA	DEL	G	G	-	rs57884177		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr2:208259255delG	ENST00000418850.1	-	0	400				AC007879.5_ENST00000412387.1_RNA																							ggcaagtcatgggggggctgg	0.567													4	3	---	---	---	---					
ABCC5	10057	broad.mit.edu	37	3	183700629	183700630	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr3:183700629_183700630insC	ENST00000334444.6	-	6	997_998	c.757_758insG	c.(757-759)catfs	p.H253fs	ABCC5_ENST00000265586.6_Frame_Shift_Ins_p.H253fs|ABCC5_ENST00000492216.1_5'UTR	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	253	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GGTTAGGATGGCCCCCCGCAAG	0.515													9	290	---	---	---	---					
ATP10D	57205	broad.mit.edu	37	4	47559697	47559698	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr4:47559697_47559698insG	ENST00000273859.3	+	12	2110_2111	c.1841_1842insG	c.(1840-1842)cggfs	p.R614fs	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	614					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACCCTTCACTGGGGGGGTTGC	0.401													7	146	---	---	---	---					
PPP1R10	5514	broad.mit.edu	37	6	30571291	30571292	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr6:30571291_30571292insC	ENST00000376511.2	-	16	2276_2277	c.1724_1725insG	c.(1723-1725)gggfs	p.G575fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	575	Gly-rich.|Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCCTCCTCCTCCAGGGCCTTG	0.579													7	394	---	---	---	---					
HLA-DRB6	3128	broad.mit.edu	37	6	32521545	32521546	+	RNA	INS	-	-	AAGG	rs144810212	by1000genomes	TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr6:32521545_32521546insAAGG	ENST00000411500.1	-	0	851					NR_001298.1																						TTGGGGAAAGACTTTATCCAGG	0.436													2	4	---	---	---	---					
BRD2	6046	broad.mit.edu	37	6	32948228	32948229	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr6:32948228_32948229insC	ENST00000395289.2	+	13	3962_3963	c.2361_2362insC	c.(2359-2364)aaccccfs	p.NP787fs	BRD2_ENST00000395287.1_Frame_Shift_Ins_p.NP787fs|BRD2_ENST00000374825.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000374831.4_Frame_Shift_Ins_p.NP752fs|BRD2_ENST00000449085.2_Frame_Shift_Ins_p.NP705fs|BRD2_ENST00000443797.2_Frame_Shift_Ins_p.NP632fs			P25440	BRD2_HUMAN	bromodomain containing 2	752	ET.|Poly-Ser.|Ser-rich.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						CTACTAAAAAGCCCCCCAAGAA	0.426													7	323	---	---	---	---					
VPS52	6293	broad.mit.edu	37	6	33219719	33219720	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr6:33219719_33219720insG	ENST00000445902.2	-	18	2041_2042	c.1823_1824insC	c.(1822-1824)cttfs	p.L608fs	VPS52_ENST00000436044.2_Frame_Shift_Ins_p.L483fs|HCG25_ENST00000450514.1_RNA|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_5'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	608					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						AACCCCCAAAAGGGGGAGACAG	0.480													32	214	---	---	---	---					
HCRTR2	3062	broad.mit.edu	37	6	55113573	55113574	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr6:55113573_55113574insT	ENST00000370862.3	+	2	696_697	c.360_361insT	c.(358-363)tgttttfs	p.CF120fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	120					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAGACCTGGTTTTTTGGACA	0.431													9	1402	---	---	---	---					
AC010971.1	0	broad.mit.edu	37	7	49279475	49279476	+	RNA	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr7:49279475_49279476insG	ENST00000440455.1	+	0	198																											agctggaagttggggggatggg	0.599													2	4	---	---	---	---					
KCTD7	154881	broad.mit.edu	37	7	66270286	66270287	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr7:66270286_66270287insC	ENST00000380828.2	+	10	1254_1255	c.1100_1101insC	c.(1099-1101)accfs	p.T367fs	RABGEF1_ENST00000284957.5_Frame_Shift_Ins_p.T327fs|KCTD7_ENST00000451741.2_Frame_Shift_Ins_p.T327fs|RABGEF1_ENST00000437078.2_Frame_Shift_Ins_p.T341fs|RABGEF1_ENST00000450873.2_Frame_Shift_Ins_p.T327fs|RABGEF1_ENST00000439720.2_Frame_Shift_Ins_p.T340fs|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Frame_Shift_Ins_p.T327fs			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TTGAAGGGCAACCCCCCACGCC	0.505													7	213	---	---	---	---					
SVOPL	136306	broad.mit.edu	37	7	138312995	138312996	+	Frame_Shift_Ins	INS	-	-	C	rs79662895		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr7:138312995_138312996insC	ENST00000421622.1	-	7	824_825	c.616_617insG	c.(616-618)ctcfs	p.L206fs	SVOPL_ENST00000419765.3_Frame_Shift_Ins_p.L326fs|SVOPL_ENST00000288513.5_Frame_Shift_Ins_p.L174fs|SVOPL_ENST00000436657.1_Frame_Shift_Ins_p.L174fs			Q8N434	SVOPL_HUMAN	SVOP-like	326						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CTCCCCTGAGTCCCCCCCAGTC	0.554													7	187	---	---	---	---					
LINC01505	100996590	broad.mit.edu	37	9	109409897	109409897	+	RNA	DEL	C	C	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr9:109409897delC	ENST00000444985.2	+	0	451																											ggcccactctcccactccact	0.433													2	4	---	---	---	---					
MAN1B1	11253	broad.mit.edu	37	9	139995547	139995548	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr9:139995547_139995548insG	ENST00000371589.4	+	7	1080_1081	c.1007_1008insG	c.(1006-1008)cggfs	p.R336fs	MAN1B1_ENST00000474902.1_Frame_Shift_Ins_p.R39fs	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	336					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		ATCCGCATCCTGGGGGGGCTCC	0.540													7	84	---	---	---	---					
ZDHHC13	54503	broad.mit.edu	37	11	19180545	19180546	+	Frame_Shift_Ins	INS	-	-	T			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr11:19180545_19180546insT	ENST00000446113.2	+	10	1187_1188	c.1066_1067insT	c.(1066-1068)tttfs	p.F356fs	ZDHHC13_ENST00000399351.3_Frame_Shift_Ins_p.F226fs	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	356	Phe-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GCTAAGTTCTGTTTTTTGGATA	0.292													2	4	---	---	---	---					
OR5G5P	81191	broad.mit.edu	37	11	56569963	56569963	+	RNA	DEL	A	A	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr11:56569963delA	ENST00000378368.2	-	0	412																											CAAAATGGCCAAAAAACCATA	0.423													2	4	---	---	---	---					
ALDH3B2	222	broad.mit.edu	37	11	67433066	67433067	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr11:67433066_67433067insC	ENST00000349015.3	-	7	833_834	c.395_396insG	c.(394-396)gaafs	p.E132fs	ALDH3B2_ENST00000530069.1_Frame_Shift_Ins_p.E132fs	NM_000695.3	NP_000686.2	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	132				G -> V (in Ref. 4; BAC03897).	alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	AGGGGTTCTTGCCCCCCAGCTC	0.644													9	528	---	---	---	---					
CLDN25	644672	broad.mit.edu	37	11	113650550	113650551	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr11:113650550_113650551insG	ENST00000453129.2	+	1	82_83	c.33_34insG	c.(31-36)ctggggfs	p.LG11fs		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	11						integral to membrane|tight junction	structural molecule activity	p.L14fs*24(1)		large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						AAGTCCAGCTCGGGGGGCTACT	0.550													7	200	---	---	---	---					
EP400	57634	broad.mit.edu	37	12	132466645	132466646	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr12:132466645_132466646insC	ENST00000333577.4	+	6	1768_1769	c.1659_1660insC	c.(1657-1662)atccccfs	p.IP553fs	EP400_ENST00000389562.2_Frame_Shift_Ins_p.IP516fs|EP400_ENST00000330386.6_Frame_Shift_Ins_p.IP517fs|EP400_ENST00000332482.4_Frame_Shift_Ins_p.IP480fs|EP400_ENST00000389561.2_Frame_Shift_Ins_p.IP517fs			Q96L91	EP400_HUMAN	E1A binding protein p400	553					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGGAGGAATGCCCCCCACGCC	0.589													7	406	---	---	---	---					
FREM2	341640	broad.mit.edu	37	13	39358880	39358881	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr13:39358880_39358881insG	ENST00000280481.7	+	6	6170_6171	c.5954_5955insG	c.(5953-5955)aggfs	p.R1985fs		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1985					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGCATGCCCATGGGGGGAAGAA	0.446													7	224	---	---	---	---					
PACS2	23241	broad.mit.edu	37	14	105847358	105847358	+	Frame_Shift_Del	DEL	C	C	-			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr14:105847358delC	ENST00000447393.1	+	12	1365	c.1190delC	c.(1189-1191)acfs	p.T397fs	PACS2_ENST00000458164.2_Frame_Shift_Del_p.T397fs|PACS2_ENST00000430725.2_Frame_Shift_Del_p.T322fs|PACS2_ENST00000547217.1_Frame_Shift_Del_p.T367fs|PACS2_ENST00000325438.8_Frame_Shift_Del_p.T397fs	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	397					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		GAGGCCTCCACCCTGGATGTG	0.687													2	4	---	---	---	---					
ACSM2A	123876	broad.mit.edu	37	16	20489924	20489925	+	Frame_Shift_Ins	INS	-	-	C			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr16:20489924_20489925insC	ENST00000573854.1	+	10	1320_1321	c.1206_1207insC	c.(1204-1209)ctccccfs	p.LP402fs	ACSM2A_ENST00000417235.2_Frame_Shift_Ins_p.LP323fs|ACSM2A_ENST00000396104.2_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000536134.1_Frame_Shift_Ins_p.LP174fs|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Frame_Shift_Ins_p.LP402fs|ACSM2A_ENST00000575690.1_Frame_Shift_Ins_p.LP402fs	NM_001010845.2	NP_001010845.1	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCAACGTCCTGCCCCCCGGCAC	0.505													7	306	---	---	---	---					
TNRC6A	27327	broad.mit.edu	37	16	24804889	24804890	+	Frame_Shift_Ins	INS	-	-	G	rs139796934		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr16:24804889_24804890insG	ENST00000395799.3	+	7	3400_3401	c.3271_3272insG	c.(3271-3273)gggfs	p.G1091fs	TNRC6A_ENST00000315183.7_Frame_Shift_Ins_p.G1091fs	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1091	Sufficient for interaction with EIF2C1 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGTCCCAGCTGGGGGGAACCC	0.550													8	456	---	---	---	---					
MYH10	4628	broad.mit.edu	37	17	8409750	8409751	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr17:8409750_8409751insG	ENST00000360416.3	-	27	3409_3410	c.3271_3272insC	c.(3271-3273)cgafs	p.R1091fs	MYH10_ENST00000379980.4_Frame_Shift_Ins_p.R1076fs|MYH10_ENST00000269243.4_Frame_Shift_Ins_p.R1060fs|MYH10_ENST00000396239.1_Frame_Shift_Ins_p.R1081fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1060					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCCCCGTCGAGTTTTCTTTTG	0.515													8	267	---	---	---	---					
SUPT5H	6829	broad.mit.edu	37	19	39966719	39966720	+	Splice_Site	INS	-	-	G	rs111683994		TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:39966719_39966720insG	ENST00000599117.1	+	30	3391		c.e30-1		SUPT5H_ENST00000359191.6_Splice_Site|SUPT5H_ENST00000598725.1_Splice_Site|SUPT5H_ENST00000432763.2_Splice_Site|SUPT5H_ENST00000402194.2_Splice_Site			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)						cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CCCATCCTCCAGGGGGGCATGT	0.564													7	261	---	---	---	---					
ASPHD2	57168	broad.mit.edu	37	22	26838458	26838459	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr22:26838458_26838459insG	ENST00000215906.5	+	3	1358_1359	c.920_921insG	c.(919-921)gggfs	p.G307fs		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	307					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						GAGCTGGTGGTGGGGGGAGAGC	0.559													7	269	---	---	---	---					
CSAG1	158511	broad.mit.edu	37	X	151908802	151908803	+	Frame_Shift_Ins	INS	-	-	G			TCGA-44-2666-01A-01W-0928-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb32666e-3f24-4d12-94bd-0744e85f2737	2a57edb8-d678-4a37-940f-96652a9ea819	g.chrX:151908802_151908803insG	ENST00000370291.2	+	4	321_322	c.41_42insG	c.(40-42)cggfs	p.R14fs	CSAG1_ENST00000370287.3_Frame_Shift_Ins_p.R14fs|CSAG1_ENST00000452779.2_Frame_Shift_Ins_p.R14fs			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	14										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					ttCACTGTCCTGGGGGAAGCTC	0.500													11	621	---	---	---	---					
TMCO2	127391	broad.mit.edu	37	1	40713708	40713709	+	Frame_Shift_Del	DEL	TC	TC	-			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:40713708_40713709delTC	ENST00000372766.3	+	1	136_137	c.43_44delTC	c.(43-45)tfs	p.S15fs	TMCO2_ENST00000468258.1_Intron	NM_001008740.3	NP_001008740.1	Q7Z6W1	TMCO2_HUMAN	transmembrane and coiled-coil domains 2	15						integral to membrane				kidney(1)|large_intestine(3)|lung(1)|ovary(1)	6	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			CCTCTTAGAGTCTCTCTCTCTC	0.406													7	411	---	---	---	---					
SEC22B	9554	broad.mit.edu	37	1	145109975	145109976	+	RNA	INS	-	-	C	rs67257307		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							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										CAGGAACTTTGCTAAAGATCTA	0.386													3	4	---	---	---	---					
PMS2CL	441194	broad.mit.edu	37	7	6759162	6759164	+	RNA	DEL	AAG	AAG	-			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr7:6759162_6759164delAAG	ENST00000486256.1	+	0	346					NR_002217.1																						aaaaaaaaaaaaGACCGTAGGAG	0.493													8	49	---	---	---	---					
TRGC2	6967	broad.mit.edu	37	7	38284884	38284885	+	RNA	INS	-	-	GG	rs138091320	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr7:38284884_38284885insGG	ENST00000436911.2	-	0	330																											TTATTTGTCAAGgtgtgtgtgt	0.391													35	122	---	---	---	---					
TSSC2	650368	broad.mit.edu	37	11	3424761	3424761	+	RNA	DEL	A	A	-			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr11:3424761delA	ENST00000529482.1	+	0	845																											gtctgtcaggaaaaaaaaaaa	0.413													9	36	---	---	---	---					
IL32	9235	broad.mit.edu	37	16	3119304	3119305	+	Frame_Shift_Ins	INS	-	-	G	rs2981599		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr16:3119304_3119305insG	ENST00000525643.2	+	7	847_848	c.515_516insG	c.(514-516)gaafs	p.E172fs	IL32_ENST00000531965.1_Frame_Shift_Ins_p.E162fs|IL32_ENST00000529699.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000551513.1_Frame_Shift_Ins_p.E209fs|IL32_ENST00000529550.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000382213.3_Frame_Shift_Ins_p.E163fs|IL32_ENST00000526464.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000548652.1_Frame_Shift_Ins_p.E163fs|IL32_ENST00000551122.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000534507.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000548246.1_Frame_Shift_Ins_p.E132fs|IL32_ENST00000444393.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000440815.3_Frame_Shift_Ins_p.E172fs|IL32_ENST00000549213.1_Frame_Shift_Ins_p.E115fs|IL32_ENST00000008180.9_Frame_Shift_Ins_p.E152fs|IL32_ENST00000396887.3_Frame_Shift_Ins_p.E115fs|IL32_ENST00000396890.2_Frame_Shift_Ins_p.E218fs|IL32_ENST00000325568.5_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552936.1_Frame_Shift_Ins_p.E196fs|IL32_ENST00000528163.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552664.1_Frame_Shift_Ins_p.E172fs|IL32_ENST00000552356.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000530890.1_Frame_Shift_Ins_p.E152fs|IL32_ENST00000548476.1_Frame_Shift_Ins_p.E218fs|IL32_ENST00000533097.2_Frame_Shift_Ins_p.E172fs|IL32_ENST00000530538.2_Frame_Shift_Ins_p.E172fs			P24001	IL32_HUMAN	interleukin 32	218					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						CCACGGGGGGACAAGGAGGAGC	0.574													18	422	---	---	---	---					
SPIRE2	84501	broad.mit.edu	37	16	89916879	89916880	+	In_Frame_Ins	INS	-	-	GAG	rs146569219	by1000genomes	TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr16:89916879_89916880insGAG	ENST00000378247.3	+	3	499_500	c.456_457insGAG	c.(454-459)ccagga>ccGAGagga	p.152_153PG>PRG	SPIRE2_ENST00000393062.2_In_Frame_Ins_p.152_153PG>PRG|SPIRE2_ENST00000564878.1_3'UTR	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	152	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGGGGGTCCCGAGGAGGAGGA	0.728													8	9	---	---	---	---					
TGIF1	7050	broad.mit.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	T	T	-	rs11571510		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr18:3452223delT	ENST00000330513.5	+	1	549	c.246delT	c.(244-246)ccfs	p.P85fs	TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000577543.1_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000343820.5_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	85					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P83fs*51(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCGCCCCCCCTCCTCCACCGG	0.766													10	20	---	---	---	---					
PSG7	5676	broad.mit.edu	37	19	43428981	43428982	+	RNA	INS	-	-	G			TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr19:43428981_43428982insG	ENST00000406070.2	-	0	1340					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				tccagtctacagtggataataa	0.406													8	74	---	---	---	---					
IGLV3-12	28802	broad.mit.edu	37	22	23114749	23114749	+	RNA	DEL	T	T	-	rs74864698		TCGA-44-2666-01A-01D-1489-08	TCGA-44-2666-10A-01W-0928-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d64f61a8-b66d-449b-bc6a-7f90c25ba056	2a57edb8-d678-4a37-940f-96652a9ea819	g.chr22:23114749delT	ENST00000390313.2	+	0	55																											CATCCTCTCCTTTTTTTTTTT	0.498													4	8	---	---	---	---					
