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
PHF3	23469	broad.mit.edu	37	6	64412495	64412495	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:64412495C>A	uc003pep.1	+	8	3222	c.3197C>A	c.(3196-3198)cCa>cAa	p.P1066Q	PHF3_uc010kah.1_Missense_Mutation_p.P880Q|PHF3_uc003pen.2_Missense_Mutation_p.P978Q|PHF3_uc011dxs.1_Missense_Mutation_p.P335Q	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1066					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTGATGCCCCAATGAAAGAA	0.383000													5	102					0	0	1	0	0
N6AMT2	221143	broad.mit.edu	37	13	21306050	21306050	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr13:21306050C>A	uc001uno.1	-	3	519	c.438G>T	c.(436-438)tcG>tcT	p.S146S	N6AMT2_uc009zzr.1_Silent_p.S146S|N6AMT2_uc001unp.2_Non-coding_Transcript	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA.	146							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		GACATTCCTCCGAAAGATAGG	0.423000													4	115					0	0	1	0	0
SPTY2D1	144108	broad.mit.edu	37	11	18655745	18655745	+	Splice_Site	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:18655745C>A	uc001moy.3	-	1	276	c.60_splice	c.e1+1	p.P20_splice	SPTY2D1_uc010rdi.1_Splice_Site_p.P20_splice	NM_194285	NP_919261	Q68D10	SPT2_HUMAN	Homo sapiens SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae) (SPTY2D1), mRNA.	20										breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGCTACTTACCGGCACATTGT	0.562000													6	214					0	0	1	0	0
DISP1	84976	broad.mit.edu	37	1	223178134	223178134	+	Missense_Mutation	SNP	G	G	T	rs143043410	byFrequency	TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:223178134G>T	uc001hnu.2	+	9	3721	c.3395G>T	c.(3394-3396)cGg>cTg	p.R1132L		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	1132					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		TGCATGTGCCGGTGCCTTGGA	0.507000													4	93					0	0	1	0	0
HNRNPF	3185	broad.mit.edu	37	10	43883242	43883242	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr10:43883242G>T	uc009xmh.1	-	2	578	c.91C>A	c.(91-93)Ctc>Atc	p.L31I	HNRNPF_uc001jar.2_Missense_Mutation_p.L31I|HNRNPF_uc001jas.2_Missense_Mutation_p.L31I|HNRNPF_uc001jat.2_Missense_Mutation_p.L31I|HNRNPF_uc001jav.2_Missense_Mutation_p.L31I|HNRNPF_uc001jau.2_Missense_Mutation_p.L31I|HNRNPF_uc021ppg.1_Missense_Mutation_p.L31I	NM_001098208	NP_004957	P52597	HNRPF_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.	31	RRM 1.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CAGTCAGAGAGGAAGTTCTGC	0.552000													5	57					0	0	1	0	0
LRRC8B	23507	broad.mit.edu	37	1	90058587	90058587	+	Nonsense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:90058587C>A	uc001dni.3	+	7	2904	c.2397C>A	c.(2395-2397)tgC>tgA	p.C799*	LRRC8B_uc001dnh.3_Nonsense_Mutation_p.C799*|LRRC8B_uc001dnj.3_Nonsense_Mutation_p.C799*	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	799						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TACAGACGTGCTTAGACAAAT	0.433000													4	88					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18139755	18139755	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr20:18139755C>A	uc021wbb.1	+	3	965	c.528C>A	c.(526-528)acC>acA	p.T176T	CSRP2BP_uc002wqk.3_Silent_p.T48T|CSRP2BP_uc010zru.2_Silent_p.T48T	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	176					histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						GGTGGAGCACCGTGGCAGGTT	0.463000													4	69					0	0	1	0	0
FRY	10129	broad.mit.edu	37	13	32676131	32676131	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr13:32676131G>T	uc001utx.3	+	2	798	c.302G>T	c.(301-303)gGa>gTa	p.G101V	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane		p.R100C(1)		NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CTGCAACGTGGAGAAGACCCC	0.333000													5	78					0	0	1	0	0
CYP27A1	1593	broad.mit.edu	37	2	219679301	219679301	+	Silent	SNP	C	C	A	rs143002163		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:219679301C>A	uc002viz.4	+	7	1731	c.1297C>A	c.(1297-1299)Cgg>Agg	p.R433R		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	433					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGTGGTGTCCCGGGACCCCAC	0.587000													5	162					0	0	1	0	0
VPS13C	54832	broad.mit.edu	37	15	62204152	62204152	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:62204152G>C	uc002agz.3	-	62	8693	c.8602C>G	c.(8602-8604)Ctg>Gtg	p.L2868V	VPS13C_uc002aha.3_Missense_Mutation_p.L2825V|VPS13C_uc002ahb.2_Missense_Mutation_p.L2868V|VPS13C_uc002ahc.2_Missense_Mutation_p.L2825V|VPS13C_uc002ahd.1_Missense_Mutation_p.L245V	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	2868					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAGGGAGTCAGGGTAACTATT	0.368000													12	53					0	0	1	0	0
ZC3H3	23144	broad.mit.edu	37	8	144620720	144620720	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr8:144620720G>T	uc003yyd.2	-	1	846	c.817C>A	c.(817-819)Cca>Aca	p.P273T		NM_015117	NP_055932	Q8IXZ2	ZC3H3_HUMAN	Homo sapiens zinc finger CCCH-type containing 3 (ZC3H3), mRNA.	273					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			GACGGAACTGGCTGATCTGTG	0.652000													18	144					0	0	1	0	0
NTNG2	84628	broad.mit.edu	37	9	135073411	135073411	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr9:135073411C>A	uc004cbh.2	+	2	1048	c.272C>A	c.(271-273)cCg>cAg	p.P91Q		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	91	Laminin N-terminal.				axonogenesis	anchored to plasma membrane		p.P91P(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CTGGCCCACCCGCCCAGGCTC	0.647000													4	72					0	0	1	0	0
GABRR1	2569	broad.mit.edu	37	6	89888605	89888605	+	Silent	SNP	T	T	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:89888605T>G	uc003pna.2	-	9	1779	c.1324A>C	c.(1324-1326)Aga>Cga	p.R442R	GABRR1_uc011dzv.1_Silent_p.R419R	NM_002042	NP_002033	P24046	GBRR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 1 (GABRR1), mRNA.	442					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TAGCTGCTTCTCTGACTTTTC	0.478000													14	100					0	0	1	0	0
TRIP4	9325	broad.mit.edu	37	15	64737299	64737299	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:64737299C>G	uc002anm.3	+	11	1730	c.1670C>G	c.(1669-1671)cCa>cGa	p.P557R		NM_016213	NP_057297	Q15650	TRIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 4 (TRIP4), mRNA.	557					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGGAAATCCAAAAATCTGT	0.348000													11	48					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101983834	101983834	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:101983834T>C	uc002bxa.2	-	2	640	c.326A>G	c.(325-327)tAt>tGt	p.Y109C	PCSK6_uc010bpd.3_5'UTR|PCSK6_uc002bwy.3_Missense_Mutation_p.Y109C|PCSK6_uc010bpe.3_Missense_Mutation_p.Y106C|PCSK6_uc002bxb.2_Missense_Mutation_p.Y109C|PCSK6_uc002bxc.1_Missense_Mutation_p.Y109C|PCSK6_uc002bxd.1_Missense_Mutation_p.Y109C|PCSK6_uc002bxe.3_Missense_Mutation_p.Y109C|PCSK6_uc002bxg.1_Missense_Mutation_p.Y109C	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	110					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	Golgi lumen|cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTGCTGTGATAAAAATGGTA	0.443000													26	169					0	0	1	0	0
ZNF551	90233	broad.mit.edu	37	19	58198616	58198616	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:58198616C>A	uc002qpw.4	+	2	1148	c.925C>A	c.(925-927)Cac>Aac	p.H309N	ZNF551_uc002qpv.4_Missense_Mutation_p.H252N|ZNF551_uc002qpx.3_Intron	NM_138347	NP_612356	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 551 (ZNF551), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATTCATTCACCACCAGAGACG	0.428000													4	91					0	0	1	0	0
ITGB4	3691	broad.mit.edu	37	17	73725380	73725380	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:73725380T>G	uc002jpg.3	+	6	788	c.601T>G	c.(601-603)Ttc>Gtc	p.F201V	ITGB4_uc002jph.3_Missense_Mutation_p.F201V|ITGB4_uc010dgo.3_Missense_Mutation_p.F201V|ITGB4_uc002jpi.4_Missense_Mutation_p.F201V|ITGB4_uc010dgp.1_Missense_Mutation_p.F201V|ITGB4_uc002jpj.3_Missense_Mutation_p.F201V|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	201	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity	p.F201fs*9(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGACCCCCCCTTCTCCTTCAA	0.607000													11	71					0	0	1	0	0
ATP6V0A2	23545	broad.mit.edu	37	12	124212379	124212379	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:124212379A>C	uc001ufr.3	+	5	819	c.571A>C	c.(571-573)Atg>Ctg	p.M191L	ATP6V0A2_uc001ufq.1_Missense_Mutation_p.M191L	NM_012463	NP_036595	Q9Y487	VPP2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a2 (ATP6V0A2), mRNA.	191					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		ATTTGAAAAAATGTTGTGGAG	0.408000													23	61					0	0	1	0	0
MYT1L	23040	broad.mit.edu	37	2	1982977	1982977	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:1982977C>A	uc002qxe.3	-	7	939	c.112G>T	c.(112-114)Ggc>Tgc	p.G38C	MYT1L_uc002qxd.3_Missense_Mutation_p.G38C	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	38					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGACCACTGCCGTCACAGCCA	0.512000													3	27					0	0	1	0	0
C8orf82	414919	broad.mit.edu	37	8	145753101	145753101	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr8:145753101G>T	uc003zdp.1	-	2	434	c.276C>A	c.(274-276)ttC>ttA	p.F92L	LRRC24_uc003zdm.3_5'Flank|C8orf82_uc003zdq.1_Missense_Mutation_p.F84L	NM_001001795	NP_001001795	Q6P1X6	CH082_HUMAN	Homo sapiens chromosome 8 open reading frame 82 (C8orf82), mRNA.	92										endometrium(1)|urinary_tract(1)	2						AGAGGAAGGGGAAAGCGGCCT	0.687000													4	21					0	0	1	0	0
SGCD	6444	broad.mit.edu	37	5	155935636	155935636	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:155935636C>G	uc003lwc.4	+	3	737	c.218C>G	c.(217-219)aCa>aGa	p.T73R	SGCD_uc003lwa.1_Missense_Mutation_p.T73R|SGCD_uc003lwb.3_Missense_Mutation_p.T73R|SGCD_uc003lwd.4_Missense_Mutation_p.T72R	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	72					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGAGGATCACAGAAAAAGGT	0.413000													13	45					0	0	1	0	0
OR6T1	219874	broad.mit.edu	37	11	123813655	123813655	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:123813655C>A	uc010sab.2	-	0	891	c.891G>T	c.(889-891)gtG>gtT	p.V297V		NM_001005187	NP_001005187	Q8NGN1	OR6T1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily T, member 1 (OR6T1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		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;0.0401)		GTGCTTGCTGCACCTTGTCAT	0.502000													26	295					0	0	1	0	0
ZNF354C	30832	broad.mit.edu	37	5	178506547	178506547	+	Missense_Mutation	SNP	G	G	T	rs143223305		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:178506547G>T	uc003mju.3	+	4	1229	c.1114G>T	c.(1114-1116)Gct>Tct	p.A372S		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TACATCTCTAGCTGAACATCA	0.423000													5	168					0	0	1	0	0
SHB	6461	broad.mit.edu	37	9	37956003	37956003	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr9:37956003C>A	uc004aax.3	-	3	1671	c.1103G>T	c.(1102-1104)cGg>cTg	p.R368L		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	368	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		CCGCCGGTCCCGCGAAGGTGA	0.602000													3	19					0	0	1	0	0
NWD1	284434	broad.mit.edu	37	19	16902377	16902377	+	Missense_Mutation	SNP	T	T	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:16902377T>G	uc002neu.4	+	13	3579	c.3157T>G	c.(3157-3159)Tca>Gca	p.S1053A	NWD1_uc002net.4_Missense_Mutation_p.S918A|NWD1_uc002nev.4_Missense_Mutation_p.S847A|NWD1_uc021uqg.1_Missense_Mutation_p.S918A	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	1053							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTGTGCCGTCTCAGTCCAGAA	0.478000													13	141					0	0	1	0	0
CD248	57124	broad.mit.edu	37	11	66083697	66083697	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:66083697C>G	uc001ohm.1	-	0	819	c.802G>C	c.(802-804)Ggg>Cgg	p.G268R		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	268						integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	CAACTGCGCCCGTCTGCTGCC	0.672000													7	40					0	0	1	0	0
SMAD6	4091	broad.mit.edu	37	15	67073658	67073658	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:67073658G>T	uc002aqf.3	+	3	2199	c.1276G>T	c.(1276-1278)Gtc>Ttc	p.V426F	SMAD6_uc010bhx.3_Non-coding_Transcript|SMAD6_uc002aqg.3_Missense_Mutation_p.V165F	NM_005585	NP_005576	O43541	SMAD6_HUMAN	Homo sapiens SMAD family member 6 (SMAD6), transcript variant 1, mRNA.	426	MH2.				BMP signaling pathway|immune response|negative regulation of BMP signaling pathway|negative regulation of SMAD protein complex assembly|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	I-SMAD binding|R-SMAD binding|co-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						CCGCGCCCTGGTCGTGCGCAA	0.731000													9	42					0	0	1	0	0
BRE	9577	broad.mit.edu	37	2	28550226	28550226	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:28550226C>G	uc002rls.3	+	11	1426	c.1174C>G	c.(1174-1176)Cag>Gag	p.Q392E	BRE_uc002rlp.1_Intron|BRE_uc002rlq.3_Intron|BRE_uc002rlr.3_Intron|BRE_uc002rlt.3_Intron|BRE_uc002rlu.3_Intron|BRE_uc002rlv.3_Intron	NM_004899	NP_004890	Q9NXR7	BRE_HUMAN	Homo sapiens brain and reproductive organ-expressed (TNFRSF1A modulator) (BRE), transcript variant 1, mRNA.	0					G2/M transition DNA damage checkpoint|apoptosis|chromatin modification|double-strand break repair|positive regulation of DNA repair|positive regulation of anti-apoptosis|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CAAGCTGCTCCAGCCCCAGAG	0.557000													29	182					0	0	1	0	0
TMC7	79905	broad.mit.edu	37	16	19058466	19058466	+	Silent	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:19058466G>T	uc002dfp.2	+	11	1765	c.1635G>T	c.(1633-1635)ctG>ctT	p.L545L	TMC7_uc002dfq.3_Silent_p.L545L|TMC7_uc010vap.2_Silent_p.L435L	NM_024847	NP_079123	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	545						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						ATAACGTCCTGGGGATAGTTT	0.493000													7	464					0	0	1	0	0
TNS4	84951	broad.mit.edu	37	17	38638448	38638448	+	Silent	SNP	A	A	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:38638448A>T	uc010cxb.3	-	7	1769	c.1605T>A	c.(1603-1605)tcT>tcA	p.S535S	TNS4_uc002huu.4_5'Flank	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	535	SH2.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACACGAAGGCAGAGAGGCTCC	0.622000													4	47					0	0	1	0	0
AMOTL1	154810	broad.mit.edu	37	11	94533202	94533202	+	Silent	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:94533202G>T	uc001pfb.3	+	2	1016	c.846G>T	c.(844-846)tcG>tcT	p.S282S	AMOTL1_uc001pfc.3_Silent_p.S232S	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	282						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TTCCCGGCTCGGGGAATGGAA	0.627000													4	132					0	0	1	0	0
MMP17	4326	broad.mit.edu	37	12	132335621	132335621	+	Silent	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:132335621G>T	uc001ujc.1	+	9	1713	c.1614G>T	c.(1612-1614)gcG>gcT	p.A538A	MMP17_uc001ujd.1_Silent_p.A454A	NM_016155	NP_057239	Q9ULZ9	MMP17_HUMAN	Homo sapiens matrix metallopeptidase 17 (membrane-inserted) (MMP17), mRNA.	538					proteolysis	anchored to membrane|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)		GCGTGGACGCGGCAGAGGGGC	0.692000													3	21					0	0	1	0	0
ASCC2	84164	broad.mit.edu	37	22	30221628	30221628	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr22:30221628C>T	uc003agr.3	-	2	367	c.223G>A	c.(223-225)Gat>Aat	p.D75N	ASCC2_uc011akr.2_Intron|ASCC2_uc003ags.3_Non-coding_Transcript	NM_032204	NP_115580	Q9H1I8	ASCC2_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 2 (ASCC2), transcript variant 1, mRNA.	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			CAGAATTTATCGTGAGGCAAG	0.502000													10	102					0	0	1	0	0
NEK4	6787	broad.mit.edu	37	3	52802507	52802507	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:52802507C>A	uc003dfq.4	-	1	410	c.207G>T	c.(205-207)aaG>aaT	p.K69N	NEK4_uc011bej.2_Intron|NEK4_uc003dfr.3_Missense_Mutation_p.K69N	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	69	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		CCCATGACTCCTTGTAGGTGA	0.522000													7	206					0	0	1	0	0
IRF8	3394	broad.mit.edu	37	16	85936654	85936654	+	Silent	SNP	A	A	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:85936654A>C	uc002fjh.3	+	1	90	c.33A>C	c.(31-33)cgA>cgC	p.R11R	IRF8_uc002fji.3_Silent_p.R11R	NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	11					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGCGGCTTCGACAGTGGCTGA	0.488000													27	167					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102516424	102516424	+	Silent	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:102516424G>T	uc002cdi.3	+	10	2170	c.750G>T	c.(748-750)ccG>ccT	p.P250P	WASH3P_uc010bpo.3_Non-coding_Transcript|WASH3P_uc002cdq.3_Non-coding_Transcript|WASH3P_uc002cdr.3_Non-coding_Transcript					Homo sapiens WAS protein family homolog 3 pseudogene (WASH3P), non-coding RNA.									p.P449P(4)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						TGCCGCCACCGCAGCAGCCAC	0.647000													12	52					0	0	1	0	0
SERPINA13	388007	broad.mit.edu	37	14	95109845	95109845	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr14:95109845C>A	uc001ydt.3	+	2	882	c.794C>A	c.(793-795)cCa>cAa	p.P265Q						Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13 (pseudogene) (SERPINA13), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(9)|skin(1)	12						GCCACCAGCCCAAAGGAGTTC	0.577000													4	61					0	0	1	0	0
CNPY4	245812	broad.mit.edu	37	7	99720144	99720144	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:99720144C>T	uc003uto.3	+	2	389	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TAF6_uc011kji.2_5'Flank	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA.	96						extracellular region		p.E95Q(1)		breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTATGTGAGCGGATCCTGGA	0.522000													75	190					0	0	1	0	0
CDK13	8621	broad.mit.edu	37	7	40132728	40132728	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:40132728C>G	uc003thh.4	+	12	3862	c.3580C>G	c.(3580-3582)Cag>Gag	p.Q1194E	CDK13_uc003thi.4_Missense_Mutation_p.Q1134E|CDK13_uc003thj.3_Missense_Mutation_p.Q245E|CDK13_uc003thk.3_Missense_Mutation_p.Q127E	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1194					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|RNA polymerase II carboxy-terminal domain kinase activity|cyclin-dependent protein kinase activity|protein binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AATAAAGGCTCAGCAGTCAAA	0.502000													32	165					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28421899	28421899	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:28421899C>A	uc001zbj.3	-	61	9554	c.9448G>T	c.(9448-9450)Ggt>Tgt	p.G3150C		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3150					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTCTGTGACCGAGAAGGACT	0.493000													5	253					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578404	7578404	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:7578404A>G	uc002gim.2	-	4	720	c.526T>C	c.(526-528)Tgc>Cgc	p.C176R	TP53_uc002gig.1_Missense_Mutation_p.C176R|TP53_uc002gih.3_Missense_Mutation_p.C176R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C44R|TP53_uc010cnf.1_Missense_Mutation_p.C44R|TP53_uc002gii.1_Missense_Mutation_p.C44R|TP53_uc010cni.1_Missense_Mutation_p.C176R|TP53_uc010cnh.1_Missense_Mutation_p.C176R|TP53_uc002gij.2_Missense_Mutation_p.C176R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C83R|TP53_uc002gio.2_Missense_Mutation_p.C44R|TP53_uc010vug.2_Missense_Mutation_p.C137R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	176	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R175H(807)|p.C176F(112)|p.C176Y(59)|p.C176S(29)|p.C176R(20)|p.R175L(19)|p.R175G(15)|p.R175C(15)|p.C176fs*71(14)|p.C176W(11)|p.C176G(10)|p.0?(8)|p.C176*(8)|p.R175P(6)|p.C176_R181delCPHHER(6)|p.R175S(6)|p.C176fs*5(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(3)|p.V157_C176del20(2)|p.C176fs*65(2)|p.C176_P177delCP(2)|p.C176fs*68(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R175fs*5(2)|p.C176fs*72(2)|p.R174_C176delRRC(2)|p.V173fs*59(2)|p.C176del(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.C176fs*6(2)|p.R174fs*1(2)|p.K164_P219del(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.C44G(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.R81fs*24(1)|p.C83G(1)|p.R174fs*3(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)		TGGTGGGGGCAGCGCCTCACA	0.647000		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)			22	56					0	0	1	0	0
PAG1	55824	broad.mit.edu	37	8	81897430	81897430	+	Missense_Mutation	SNP	C	C	A	rs34329724		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr8:81897430C>A	uc003ybz.3	-	6	1168	c.457G>T	c.(457-459)Ggg>Tgg	p.G153W		NM_018440	NP_060910	Q9NWQ8	PAG1_HUMAN	Homo sapiens phosphoprotein associated with glycosphingolipid microdomains 1 (PAG1), mRNA.	153					T cell receptor signaling pathway|epidermal growth factor receptor signaling pathway|intracellular signal transduction	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CCCTGGTCCCCGTCCACACTT	0.562000													4	116					0	0	1	0	0
TYW1	55253	broad.mit.edu	37	7	66489943	66489943	+	Silent	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:66489943G>A	uc003tvn.3	+	6	1067	c.918G>A	c.(916-918)caG>caA	p.Q306Q	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	306					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				AGGACCATCAGAGCCTAAATT	0.418000													6	120					0	0	1	0	0
ZNF236	7776	broad.mit.edu	37	18	74587566	74587566	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr18:74587566C>A	uc002lmi.3	+	5	978	c.780C>A	c.(778-780)gcC>gcA	p.A260A	ZNF236_uc002lmj.3_Non-coding_Transcript|ZNF236_uc002lmk.1_Silent_p.A260A	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	260					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TCTGTCCTGCCGCCTTCTCTC	0.532000											OREG0025069	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	4	137					0	0	1	0	0
LEPREL4	10609	broad.mit.edu	37	17	39968157	39968157	+	Missense_Mutation	SNP	A	A	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:39968157A>C	uc002hxu.3	-	1	478	c.284T>G	c.(283-285)gTg>gGg	p.V95G	FKBP10_uc002hxv.2_5'Flank|LEPREL4_uc002hxt.3_Missense_Mutation_p.V4G	NM_006455	NP_006446	Q92791	SC65_HUMAN	Homo sapiens leprecan-like 4 (LEPREL4), mRNA.	4					synaptonemal complex assembly	nucleolus|synaptonemal complex	binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						CCCCCACGCCACCCGAGCCAT	0.781000													4	2					0	0	1	0	0
PYCR1	5831	broad.mit.edu	37	17	79892256	79892256	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr17:79892256C>A	uc002kct.1	-	6	825	c.743G>T	c.(742-744)gGg>gTg	p.G248V	PYCR1_uc002kcp.3_Missense_Mutation_p.G248V|PYCR1_uc002kcr.1_Missense_Mutation_p.G248V|PYCR1_uc010wvd.1_Missense_Mutation_p.G275V|PYCR1_uc002kcu.1_Missense_Mutation_p.G217V|PYCR1_uc010wve.1_Missense_Mutation_p.G169V	NM_006907	NP_008838	P32322	P5CR1_HUMAN	Homo sapiens pyrroline-5-carboxylate reductase 1 (PYCR1), transcript variant 1, mRNA.	248					cellular response to oxidative stress|proline biosynthetic process	mitochondrial matrix	binding|pyrroline-5-carboxylate reductase activity			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		L-Proline(DB00172)|NADH(DB00157)	GCGGAAGCCCCCACTCTCCAG	0.642000													4	38					0	0	1	0	0
JAK2	3717	broad.mit.edu	37	9	5054630	5054630	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr9:5054630C>A	uc010mhm.3	+	5	795	c.682C>A	c.(682-684)Cga>Aga	p.R228R	JAK2_uc003ziw.3_Silent_p.R228R	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	228	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				JAK-STAT cascade involved in growth hormone signaling pathway|STAT protein import into nucleus|actin filament polymerization|activation of JAK2 kinase activity|activation of caspase activity by protein phosphorylation|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of DNA binding|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|SH2 domain binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GACAAGGAAGCGAATAAGGTA	0.348000		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial				4	153					0	0	1	0	0
TRIO	7204	broad.mit.edu	37	5	14508079	14508079	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:14508079T>C	uc003jff.3	+	56	8848	c.8842T>C	c.(8842-8844)Tac>Cac	p.Y2948H	TRIO_uc003jfg.3_Non-coding_Transcript	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	2948	Protein kinase.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|Rho guanyl-nucleotide exchange factor activity|protein serine/threonine kinase activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CACGACCTACTACATCCACCA	0.517000													9	65					0	0	1	0	0
NCAM2	4685	broad.mit.edu	37	21	22782676	22782676	+	Silent	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr21:22782676G>A	uc002yld.2	+	9	1527	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	NCAM2_uc011acb.2_Silent_p.S284S	NM_004540	NP_004531	O15394	NCAM2_HUMAN	Homo sapiens neural cell adhesion molecule 2 (NCAM2), mRNA.	426	Ig-like C2-type 5.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		ATGTGAAATCGAATCCACCAG	0.323000													29	80					0	0	1	0	0
KCNB1	3745	broad.mit.edu	37	20	47989844	47989844	+	Silent	SNP	A	A	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr20:47989844A>C	uc002xur.1	-	1	2419	c.2253T>G	c.(2251-2253)ggT>ggG	p.G751G	KCNB1_uc002xus.1_Silent_p.G751G	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	751					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.G751G(4)		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)			ACTGGTGGACACCCGCCTCAA	0.572000													17	205					0	0	1	0	0
SIPA1L2	57568	broad.mit.edu	37	1	232607141	232607141	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:232607141G>T	uc001hvg.3	-	5	2377	c.2219C>A	c.(2218-2220)cCa>cAa	p.P740Q		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	740	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.P740Q(2)		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)				TTCGGTACATGGATTATGCAC	0.433000													5	143					0	0	1	0	0
CDCA7L	55536	broad.mit.edu	37	7	21942672	21942672	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr7:21942672C>T	uc010kuk.3	-	8	1378	c.1258G>A	c.(1258-1260)Ggc>Agc	p.G420S	CDCA7L_uc003sve.4_Missense_Mutation_p.G386S|CDCA7L_uc010kul.3_Missense_Mutation_p.G374S|CDCA7L_uc003svf.4_Missense_Mutation_p.G419S	NM_018719	NP_001120842	Q96GN5	CDA7L_HUMAN	Homo sapiens cell division cycle associated 7-like (CDCA7L), transcript variant 1, mRNA.	420					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						GCACAGCGGCCGTCACGCTTC	0.483000													7	80					0	0	1	0	0
TUBGCP6	85378	broad.mit.edu	37	22	50658944	50658944	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr22:50658944G>C	uc003bkb.1	-	15	4356	c.3844C>G	c.(3844-3846)Ctc>Gtc	p.L1282V	TUBGCP6_uc003bka.1_Missense_Mutation_p.L369V|TUBGCP6_uc010har.1_Missense_Mutation_p.L1274V|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1282					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTGGTGAGAGAGCCCCCAGC	0.652000													6	27					0	0	1	0	0
ELK3	2004	broad.mit.edu	37	12	96640739	96640739	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:96640739G>T	uc001teo.1	+	2	508	c.229G>T	c.(229-231)Ggg>Tgg	p.G77W		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	77					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					GAAGGTGATCGGGCAGAAGTT	0.473000													4	70					0	0	1	0	0
C3orf24	115795	broad.mit.edu	37	3	10145972	10145972	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:10145972A>G	uc003buz.3	-	1	712	c.487T>C	c.(487-489)Tat>Cat	p.Y163H	C3orf24_uc003bva.2_Missense_Mutation_p.Y163H|C3orf24_uc021wsy.1_Missense_Mutation_p.Y163H	NM_173472	NP_775743	Q96PS1	CC024_HUMAN	Homo sapiens chromosome 3 open reading frame 24 (C3orf24), transcript variant 1, mRNA.	163										endometrium(1)|large_intestine(2)|lung(3)	6				OV - Ovarian serous cystadenocarcinoma(96;0.196)		TAAGTTGCATACAGCAAGAGG	0.483000													33	77					0	0	1	0	0
P4HA2	8974	broad.mit.edu	37	5	131544991	131544991	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:131544991C>A	uc003kwh.3	-	6	1307	c.743G>T	c.(742-744)cGg>cTg	p.R248L	P4HA2_uc003kwg.3_Missense_Mutation_p.R248L|P4HA2_uc003kwi.3_Missense_Mutation_p.R248L|P4HA2_uc003kwk.3_Missense_Mutation_p.R248L|P4HA2_uc003kwl.3_Missense_Mutation_p.R248L|P4HA2_uc003kwj.3_Missense_Mutation_p.R248L	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	248						endoplasmic reticulum lumen	L-ascorbic acid binding|electron carrier activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CTCAAAGTACCGCAGATTCCC	0.443000													5	276					0	0	1	0	0
DOCK5	80005	broad.mit.edu	37	8	25174561	25174561	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr8:25174561G>T	uc003xeg.3	+	13	1494	c.1357G>T	c.(1357-1359)Ggt>Tgt	p.G453C	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.G167C|DOCK5_uc003xei.3_Missense_Mutation_p.G23C	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	453	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCTGATCCACGGTGAGTTTGA	0.488000													4	150					0	0	1	0	0
SREBF2	6721	broad.mit.edu	37	22	42263225	42263225	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr22:42263225C>A	uc003bbi.3	+	1	648	c.479C>A	c.(478-480)cCg>cAg	p.P160Q	bK250D10.C22.8_uc003bba.1_Intron	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	160	Gln-rich.				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|SREBP-SCAP-Insig complex|nucleus	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						AGCACCACTCCGCAGACGAGG	0.507000													4	161					0	0	1	0	0
SPATS1	221409	broad.mit.edu	37	6	44337822	44337822	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:44337822C>A	uc021yzz.1	+	6	831	c.730C>A	c.(730-732)Cca>Aca	p.P244T	TMEM151B_uc003oxg.3_Non-coding_Transcript|SPATS1_uc010jzb.3_Missense_Mutation_p.P129T|SPATS1_uc003oxk.3_Missense_Mutation_p.P244T	NM_145026	NP_659463	Q496A3	SPAS1_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 1 (SPATS1), mRNA.	244										NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(5)|skin(1)|urinary_tract(1)	14	all_lung(25;0.00469)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TACATTTATTCCACTTGAGCC	0.323000													8	107					0	0	1	0	0
ARHGEF11	9826	broad.mit.edu	37	1	156937915	156937915	+	Splice_Site	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:156937915G>A	uc001fqo.3	-	10	1746	c.706_splice	c.e10-1	p.S236_splice	ARHGEF11_uc001fqn.3_Splice_Site_p.S276_splice	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	236					G-protein coupled receptor protein signaling pathway|Rho protein signal transduction|actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of Rho protein signal transduction|regulation of cell growth|striated muscle contraction	Golgi apparatus|cytosol|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					ATTCATCAATGACTAGAGAAA	0.517000													15	46					0	0	1	0	0
CEP76	79959	broad.mit.edu	37	18	12678245	12678245	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr18:12678245T>C	uc002kri.3	-	9	1642	c.1486A>G	c.(1486-1488)Att>Gtt	p.I496V	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_Missense_Mutation_p.I318V|CEP76_uc010wzz.2_Missense_Mutation_p.I421V	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	496					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ACAGATTTAATTGCTTCCTCA	0.433000													40	122					0	0	1	0	0
IGFBP6	3489	broad.mit.edu	37	12	53494933	53494933	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:53494933C>A	uc001sbu.1	+	2	655	c.589C>A	c.(589-591)Cgg>Agg	p.R197R	SOAT2_uc001sbv.3_5'Flank|SOAT2_uc009zms.3_5'Flank	NM_002178	NP_002169	P24592	IBP6_HUMAN	Homo sapiens insulin-like growth factor binding protein 6 (IGFBP6), mRNA.	197	Thyroglobulin type-1.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						AGGCTTCTACCGGAAGCGGCA	0.552000													4	94					0	0	1	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140256229	140256229	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:140256229C>T	uc003lic.2	+	0	1299	c.1172C>T	c.(1171-1173)cCt>cTt	p.P391L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Missense_Mutation_p.P391L	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	406	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCACTGACACCTCATGTTCCC	0.567000													21	135					0	0	1	0	0
FAM83B	222584	broad.mit.edu	37	6	54735047	54735047	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr6:54735047G>T	uc003pck.3	+	1	119	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	1								p.M1L(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCAAGCATGGAGACCTCAT	0.383000													4	76					0	0	1	0	0
CLK2	1196	broad.mit.edu	37	1	155240637	155240637	+	Silent	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:155240637C>T	uc001fjy.3	-	1	422	c.132G>A	c.(130-132)cgG>cgA	p.R44R	CLK2_uc001fjw.3_Silent_p.R44R|CLK2_uc001fjx.3_5'UTR|CLK2_uc009wqm.3_Silent_p.R44R	NM_003993	NP_003984	P49760	CLK2_HUMAN	Homo sapiens CDC-like kinase 2 (CLK2), mRNA.	44						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCGCCGACGCCGTCGTGTCC	0.552000								Other conserved DNA damage response genes					16	215					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106382	55106382	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr19:55106382C>T	uc002qgh.1	+	3	505	c.323C>T	c.(322-324)tCa>tTa	p.S108L	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Missense_Mutation_p.S108L	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	108	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GCAGGCTGGTCAGAGCCCAGT	0.612000													28	72					0	0	1	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:145367739A>G	uc021oul.1	+	82	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_uc010oye.2_Intron|NBPF10_uc010oyi.2_Intron|NBPF10_uc010oyj.2_Intron|NBPF10_uc010oyl.2_Intron	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	3445								p.K3445K(8)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													4	134					0	0	1	0	0
LOC650368	650368	broad.mit.edu	37	11	3427765	3427765	+	RNA	SNP	G	G	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr11:3427765G>C	uc010qxs.1	+	8		c.758G>C			LOC650368_uc001lxy.2_Non-coding_Transcript					Homo sapiens asparagine-linked glycosylation 1-like pseudogene (LOC650368), non-coding RNA.																		CACACGTCCTGCAGTGGCCTG	0.602000													3	78					0	0	1	0	0
ZFHX3	463	broad.mit.edu	37	16	72984859	72984859	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:72984859C>A	uc002fck.3	-	2	3398	c.2725G>T	c.(2725-2727)Ggt>Tgt	p.G909C	ZFHX3_uc002fcl.3_5'UTR	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	909					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGGATCTCACCGCCCACTGCA	0.652000													5	75					0	0	1	0	0
BRPF1	7862	broad.mit.edu	37	3	9784700	9784700	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:9784700C>A	uc003bse.3	+	6	2455	c.2056C>A	c.(2056-2058)Cgc>Agc	p.R686S	BRPF1_uc003bsf.3_Missense_Mutation_p.R692S|BRPF1_uc003bsg.3_Missense_Mutation_p.R686S|BRPF1_uc011ati.2_Missense_Mutation_p.R686S	NM_004634	NP_004625	P55201	BRPF1_HUMAN	Homo sapiens bromodomain and PHD finger containing, 1 (BRPF1), transcript variant 2, mRNA.	686	Bromo.|Interaction with MEAF6 and ING5.|Required for RUNX1 and RUNX2 transcriptional activation.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex|cytoplasm|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GGAGGCTTACCGCTACCTGAA	0.478000													4	101					0	0	1	0	0
MST1P9	11223	broad.mit.edu	37	1	17085795	17085795	+	Silent	SNP	G	G	T	rs1057379	by1000genomes	TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:17085795G>T	uc010ock.2	-	7	1026	c.1026C>A	c.(1024-1026)atC>atA	p.I342I	CROCC_uc009voy.1_Intron|MST1P9_uc001azp.4_5'UTR					Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9 (MST1P9), non-coding RNA.									p.I332I(2)|p.I342I(2)		breast(1)|endometrium(11)|kidney(9)|large_intestine(1)|lung(5)|pancreas(1)|prostate(4)|stomach(1)|urinary_tract(1)	34						TACAACGCCGGATCTGGTAGC	0.687000													4	32					0	0	1	0	0
SLC44A5	204962	broad.mit.edu	37	1	75708580	75708580	+	Silent	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:75708580C>T	uc010oqz.1	-	6	645	c.579G>A	c.(577-579)aaG>aaA	p.K193K	SLC44A5_uc001dgt.2_Silent_p.K154K|SLC44A5_uc001dgs.2_Silent_p.K112K|SLC44A5_uc001dgr.2_Silent_p.K112K|SLC44A5_uc001dgu.3_Silent_p.K154K|SLC44A5_uc010ora.2_Silent_p.K148K|SLC44A5_uc010orb.2_Silent_p.K24K	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	154						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CCTTCACAGGCTTAGCAGTGG	0.368000													16	170					0	0	1	0	0
ZFYVE16	9765	broad.mit.edu	37	5	79732904	79732904	+	Missense_Mutation	SNP	G	G	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr5:79732904G>T	uc003kgr.4	+	3	702	c.400G>T	c.(400-402)Ggt>Tgt	p.G134C	ZFYVE16_uc010jak.2_Missense_Mutation_p.G134C|ZFYVE16_uc003kgp.3_Missense_Mutation_p.G134C|ZFYVE16_uc003kgq.4_Missense_Mutation_p.G134C|ZFYVE16_uc003kgs.4_Missense_Mutation_p.G134C	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	134					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		AAGTGACATGGGTAACTTAGT	0.353000													6	144					0	0	1	0	0
GRIP2	80852	broad.mit.edu	37	3	14561979	14561979	+	Missense_Mutation	SNP	C	C	G			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:14561979C>G	uc021wtn.1	-	8	1069	c.1069G>C	c.(1069-1071)Ggg>Cgg	p.G357R		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	260					synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						AGCGAGATCCCCAGGGCAGAC	0.552000													8	37					0	0	1	0	0
CENPA	1058	broad.mit.edu	37	2	27016112	27016112	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:27016112C>A	uc002rhr.3	+	3	571	c.388C>A	c.(388-390)Cgg>Agg	p.R130R	CENPA_uc002rhs.3_Silent_p.R104R|CENPA_uc002rht.3_Non-coding_Transcript	NM_001809	NP_001800	P49450	CENPA_HUMAN	Homo sapiens centromere protein A (CENPA), transcript variant 1, mRNA.	130	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	DNA binding|chromatin binding|protein binding	p.R130R(1)		endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAACTGGCCCGGAGGATCCG	0.557000													5	333					0	0	1	0	0
GRIA2	2891	broad.mit.edu	37	4	158254022	158254022	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr4:158254022C>T	uc003ipm.4	+	6	1393	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	GRIA2_uc011cit.2_Missense_Mutation_p.R265C|GRIA2_uc003ipl.4_Missense_Mutation_p.R312C|GRIA2_uc003ipk.4_Missense_Mutation_p.R265C|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	312					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TGAAGCCTTCCGCAACCTAAG	0.468000													35	124					0	0	1	0	0
C15orf42	90381	broad.mit.edu	37	15	90137718	90137718	+	Silent	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:90137718C>A	uc002boe.3	+	5	1614	c.1614C>A	c.(1612-1614)gcC>gcA	p.A538A	C15orf42_uc021sug.1_Silent_p.A537A	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	538					DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ATTGCCTTGCCGAGCTCTACC	0.403000													4	78					0	0	1	0	0
ADAMTSL2	9719	broad.mit.edu	37	9	136405789	136405789	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr9:136405789T>A	uc011mdl.2	+	5	1039	c.482T>A	c.(481-483)cTc>cAc	p.L161H	ADAMTSL2_uc004cei.3_Missense_Mutation_p.L161H	NM_001145320	NP_055509	Q86TH1	ATL2_HUMAN	Homo sapiens ADAMTS-like 2 (ADAMTSL2), transcript variant 2, mRNA.	161					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		CAGCGGCAGCTCATGGTCCCC	0.557000													18	54					0	0	1	0	0
LOXL3	84695	broad.mit.edu	37	2	74762839	74762839	+	Missense_Mutation	SNP	T	T	C			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:74762839T>C	uc002smp.1	-	7	1364	c.1292A>G	c.(1291-1293)gAg>gGg	p.E431G	LOXL3_uc002smo.1_Missense_Mutation_p.E70G|LOXL3_uc010ffm.1_Intron|LOXL3_uc002smq.1_Missense_Mutation_p.E286G|LOXL3_uc010ffn.1_Missense_Mutation_p.E286G	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	431	SRCR 4.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity	p.V430V(1)		endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TATTTGCACCTCGACTCGCCC	0.622000													3	90					0	0	1	0	0
TMEM63A	9725	broad.mit.edu	37	1	226059717	226059717	+	Silent	SNP	G	G	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:226059717G>A	uc001hpm.2	-	4	925	c.303C>T	c.(301-303)tcC>tcT	p.S101S	TMEM63A_uc010pvi.1_Silent_p.S101S	NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	101						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					GTTGACCTGAGGAGGAAGTCG	0.438000													4	22					0	0	1	0	0
CACNA1E	777	broad.mit.edu	37	1	181701995	181701995	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr1:181701995C>A	uc009wxt.3	+	19	2968	c.2773C>A	c.(2773-2775)Cgc>Agc	p.R925S	CACNA1E_uc001gow.3_Missense_Mutation_p.R925S|CACNA1E_uc009wxs.3_Missense_Mutation_p.R906S|CACNA1E_uc001gox.1_Missense_Mutation_p.R151S	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	925					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						CCGGCATCGCCGCGTCAGGAC	0.652000													5	187					0	0	1	0	0
LOC285103	285103	broad.mit.edu	37	2	130893081	130893081	+	RNA	DEL	A	-	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr2:130893081delA	uc021voa.1	+	1		c.540delA								Homo sapiens uncharacterized LOC285103 (LOC285103), non-coding RNA.																		actccatctcaaaaaaaaaaa	0.562													2	4	---	---	---	---					
GPX1	2876	broad.mit.edu	37	3	49395674	49395676	+	In_Frame_Del	DEL	GCC	-	-	rs56041243		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr3:49395674_49395676delGCC	uc021wxw.1	-	0	116_118	c.36_38delGGC	c.(34-39)gcggcc>gcc	p.12_13AA>A	GPX1_uc021wxx.1_In_Frame_Del_p.12_13AA>A	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	12					UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion	cytosol|mitochondrion	SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity	p.A12_A13delAA(2)		breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CACCGACTGGgccgccgccgccg	0.690													3	5	---	---	---	---					
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	-	-	rs34222232		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr9:139277995_139277997delGCT	uc004chh.3	-	14	1633_1635	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	542					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.S542delS(4)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.690													7	17	---	---	---	---					
ARID2	196528	broad.mit.edu	37	12	46246100	46246100	+	Frame_Shift_Del	DEL	T	-	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:46246100delT	uc001ros.1	+	14	4194	c.4194delT	c.(4192-4194)actfs	p.T1398fs	ARID2_uc001ror.3_Frame_Shift_Del_p.T1398fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.T854fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.T1025fs|ARID2_uc001rou.1_Frame_Shift_Del_p.T732fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1398					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CACAAGGGACTTTAGATATCA	0.368			"""N, S, F"""		hepatocellular carcinoma								13	64	---	---	---	---					
CD63	967	broad.mit.edu	37	12	56119956	56119956	+	Frame_Shift_Del	DEL	A	-	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr12:56119956delA	uc001shn.3	-	5	701	c.516delT	c.(514-516)aatfs	p.N172fs	CD63_uc009znz.3_Frame_Shift_Del_p.N149fs|CD63_uc001sho.3_Frame_Shift_Del_p.N172fs	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	172					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		p.I171I(1)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						CCACAGTAACATTAATGCAGC	0.498													13	99	---	---	---	---					
INO80	54617	broad.mit.edu	37	15	41319812	41319813	+	Frame_Shift_Ins	INS	-	A	A			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr15:41319812_41319813insA	uc001zni.3	-	24	3242_3243	c.3029_3030insT	c.(3028-3030)ttgfs	p.L1010fs	INO80_uc010ucu.2_Non-coding_Transcript	NM_017553	NP_060023	Q9ULG1	INO80_HUMAN	Homo sapiens INO80 homolog (S. cerevisiae) (INO80), mRNA.	1010	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				UV-damage excision repair|cell division|cellular response to UV|cellular response to ionizing radiation|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of DNA replication involved in S phase|positive regulation of cell growth|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly	Ino80 complex|microtubule	ATP binding|ATPase activity|DNA binding|DNA helicase activity|actin binding|alpha-tubulin binding			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGGCCACACACAAAAAAGATGG	0.470													11	70	---	---	---	---					
ZFHX3	463	broad.mit.edu	37	16	72831219	72831223	+	Frame_Shift_Del	DEL	GCAGG	-	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chr16:72831219_72831223delGCAGG	uc002fck.3	-	8	6031_6035	c.5358_5362delCCTGC	c.(5356-5364)accctgctgfs	p.T1786fs	ZFHX3_uc002fcl.3_Frame_Shift_Del_p.T872fs	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1786					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TGTAGTTGCAGCAGGGTCTCAGTTG	0.580													7	146	---	---	---	---					
TSPAN7	7102	broad.mit.edu	37	X	38525456	38525456	+	Frame_Shift_Del	DEL	T	-	-			TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chrX:38525456delT	uc011mkj.2	+	3	450	c.241delT	c.(241-243)tccfs	p.S81fs	TSPAN7_uc004deg.4_Frame_Shift_Del_p.S55fs|TSPAN7_uc011mkk.2_Frame_Shift_Del_p.S72fs			P41732	TSN7_HUMAN	Homo sapiens tetraspanin 7 (TSPAN7), mRNA.	55					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCCGAGAACTCCACAAATGC	0.512													17	38	---	---	---	---					
SHROOM4	57477	broad.mit.edu	37	X	50350711	50350713	+	In_Frame_Del	DEL	TCC	-	-	rs6614551		TCGA-G9-6499-01A-12D-1961-08	TCGA-G9-6499-10A-01D-1961-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3fa7c553-f043-4ce7-9587-bb7ffc8d4b65	5fcb803a-2051-46ce-bd29-cc6ad5825bcd	g.chrX:50350711_50350713delTCC	uc004dpe.2	-	5	3455_3457	c.3429_3431delGGA	c.(3427-3432)gaggaa>gaa	p.1143_1144EE>E	SHROOM4_uc004dpd.3_Non-coding_Transcript	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	1143	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					ctcttcctcttcctcttcttctt	0.547													5	10	---	---	---	---					
