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
C15orf38	348110	broad.mit.edu	37	15	90451511	90451511	+	Splice_Site	SNP	C	C	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr15:90451511C>T	ENST00000357484.5	-	3	422		c.e3+1		C15orf38-AP3S2_ENST00000398333.3_Splice_Site|C15orf38_ENST00000460685.1_Splice_Site	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1			chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			AGGATACCTACTGTAGGACGA	0.572000													4	18					0	0	1	0	0
MEIS2	4212	broad.mit.edu	37	15	37242597	37242597	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr15:37242597G>T	ENST00000338564.5	-	10	1351	c.905C>A	c.(904-906)cCg>cAg	p.P302Q	MEIS2_ENST00000424352.2_Missense_Mutation_p.P302Q|MEIS2_ENST00000557796.2_Missense_Mutation_p.P289Q|MEIS2_ENST00000397624.3_Missense_Mutation_p.P214Q|MEIS2_ENST00000340545.5_Missense_Mutation_p.P289Q|MEIS2_ENST00000219869.9_Missense_Mutation_p.P156Q|MEIS2_ENST00000561208.1_Missense_Mutation_p.P302Q|MEIS2_ENST00000559561.1_Missense_Mutation_p.P302Q|MEIS2_ENST00000382766.2_Missense_Mutation_p.P302Q|MEIS2_ENST00000397620.2_Missense_Mutation_p.P214Q|MEIS2_ENST00000444725.1_Missense_Mutation_p.P302Q|MEIS2_ENST00000559085.1_Missense_Mutation_p.P289Q	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	302					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GGAAGGGTACGGATGCTAATG	0.378000													9	104					2.74318e-10	3.49992e-10	1	1	0
HTR2A	3356	broad.mit.edu	37	13	47466612	47466612	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr13:47466612C>T	ENST00000378688.4	-	2	657	c.526G>A	c.(526-528)Gcc>Acc	p.A176T	HTR2A_ENST00000543956.1_Missense_Mutation_p.A92T|HTR2A_ENST00000542664.1_Missense_Mutation_p.A176T			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	176					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity	p.A176T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	TTCTGGATGGCGACGTAGCGG	0.527000													19	217					0	0	1	0	0
FAT1	2195	broad.mit.edu	37	4	187542804	187542804	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr4:187542804G>A	ENST00000441802.2	-	10	5145	c.4936C>T	c.(4936-4938)Cca>Tca	p.P1646S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1646	Cadherin 14.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCACTCATTGGTGGACTGCCC	0.388000										HNSCC(5;0.00058)			4	59					0	0	1	0	0
TGOLN2	10618	broad.mit.edu	37	2	85554633	85554633	+	Silent	SNP	C	C	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr2:85554633C>T	ENST00000377386.3	-	2	684	c.222G>A	c.(220-222)gcG>gcA	p.A74A	TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A74A|TGOLN2_ENST00000409232.3_Silent_p.A74A			O43493	TGON2_HUMAN	trans-golgi network protein 2	74	14 X 14 AA tandem repeats.			A -> P (in Ref. 4; BAD96783).		integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CTGGGGTCTGCGCCTCCGCAC	0.607000													5	356					0	0	1	0	0
KDM4C	23081	broad.mit.edu	37	9	7103709	7103709	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr9:7103709G>A	ENST00000381309.3	+	18	3014	c.2449G>A	c.(2449-2451)Gtt>Att	p.V817I	KDM4C_ENST00000381306.3_Missense_Mutation_p.V817I|KDM4C_ENST00000442236.2_Missense_Mutation_p.V562I|KDM4C_ENST00000536108.1_Silent_p.G599G|KDM4C_ENST00000428870.2_Missense_Mutation_p.V504I	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	817					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						CAGACACCGGGTTAAGAGGGT	0.502000													3	39					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77767349	77767349	+	Missense_Mutation	SNP	A	A	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr8:77767349A>T	ENST00000521891.2	+	10	8640	c.8192A>T	c.(8191-8193)gAt>gTt	p.D2731V	ZFHX4_ENST00000050961.6_Missense_Mutation_p.D2686V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.D2686V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.D2705V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2686						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATCTATTTTGATTACCCATCT	0.428000										HNSCC(33;0.089)			3	26					0	0	1	0	0
HDAC2	3066	broad.mit.edu	37	6	114274541	114274541	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr6:114274541T>C	ENST00000519065.1	-	6	915	c.539A>G	c.(538-540)cAt>cGt	p.H180R	HDAC2_ENST00000398283.2_Missense_Mutation_p.H274R|HDAC2_ENST00000519108.1_Missense_Mutation_p.H150R|HDAC2_ENST00000368632.2_Missense_Mutation_p.H150R			Q92769	HDAC2_HUMAN	histone deacetylase 2	180	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	ACCATCACCATGATGAATATC	0.358000													6	71					0	0	1	0	0
ATPAF1	64756	broad.mit.edu	37	1	47119538	47119538	+	Splice_Site	SNP	A	A	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr1:47119538A>T	ENST00000576409.1	-	5	622	c.560T>A	c.(559-561)aTt>aAt	p.I187N	ATPAF1_ENST00000329231.4_Splice_Site_p.I187N|ATPAF1_ENST00000542495.1_Splice_Site_p.I13N|ATPAF1_ENST00000371937.4_Splice_Site_p.I164N|ATPAF1_ENST00000532925.1_Splice_Site_p.I76N|ATPAF1_ENST00000574428.1_Splice_Site_p.I164N			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	164					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					TTGCTGCCAAATCTGTACAAA	0.393000													3	41					0	0	1	0	0
MIR323A	442897	broad.mit.edu	37	14	101492129	101492129	+	RNA	SNP	G	G	A			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr14:101492129G>A	ENST00000362199.1	+	0	61					NR_029890.1																						CACATTACACGGTCGACCTCT	0.572000													5	98					0	0	1	0	0
ELSPBP1	64100	broad.mit.edu	37	19	48522984	48522984	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr19:48522984G>A	ENST00000339841.2	+	5	542	c.364G>A	c.(364-366)Gga>Aga	p.G122R	ELSPBP1_ENST00000597519.1_Intron	NM_022142.4	NP_071425.3	Q96BH3	ESPB1_HUMAN	epididymal sperm binding protein 1	122					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		AGAGTATGGGGGAAATTCTCT	0.458000													7	35					0	0	1	0	0
CCT7	10574	broad.mit.edu	37	2	73476983	73476983	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr2:73476983C>G	ENST00000539919.1	+	10	1248	c.877C>G	c.(877-879)Ctg>Gtg	p.L293V	CCT7_ENST00000258091.5_Missense_Mutation_p.L337V|CCT7_ENST00000540468.1_Missense_Mutation_p.L250V|CCT7_ENST00000538797.1_Missense_Mutation_p.L209V|CCT7_ENST00000398422.2_Missense_Mutation_p.L133V|CCT7_ENST00000537131.1_Missense_Mutation_p.L237V	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	337				L -> P (in Ref. 8; AAB41437).	'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGTGAATGCTCTGTCAGCAGA	0.597000													4	189					0	0	1	0	0
FOXO3	2309	broad.mit.edu	37	6	108985226	108985226	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr6:108985226C>G	ENST00000406360.1	+	2	1533	c.1190C>G	c.(1189-1191)cCg>cGg	p.P397R	FOXO3_ENST00000343882.6_Missense_Mutation_p.P397R|FOXO3_ENST00000540898.1_Missense_Mutation_p.P177R	NM_001455.3	NP_001446.1	O43524	FOXO3_HUMAN	forkhead box O3	397					antral ovarian follicle growth|apoptosis|embryo development|glucose homeostasis|induction of apoptosis|initiation of primordial ovarian follicle growth|insulin receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|oocyte maturation|ovulation from ovarian follicle|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(5)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26		all_cancers(87;1.78e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;3.88e-05)|Colorectal(196;0.0294)|all_lung(197;0.0487)|Lung SC(18;0.152)		Epithelial(106;0.000759)|all cancers(137;0.00121)|BRCA - Breast invasive adenocarcinoma(108;0.00163)|OV - Ovarian serous cystadenocarcinoma(136;0.00718)		ATCACGCTCCCGCCATCCCAG	0.592000													4	38					0	0	1	0	0
RNF145	153830	broad.mit.edu	37	5	158630573	158630573	+	Missense_Mutation	SNP	G	G	A			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr5:158630573G>A	ENST00000424310.2	-	2	412	c.53C>T	c.(52-54)cCa>cTa	p.P18L	RNF145_ENST00000274542.2_Missense_Mutation_p.P46L|RNF145_ENST00000518802.1_Missense_Mutation_p.P48L|RNF145_ENST00000521606.2_Missense_Mutation_p.P35L|RNF145_ENST00000519865.1_Missense_Mutation_p.P18L|RNF145_ENST00000520638.1_Missense_Mutation_p.P32L	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	18						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATGATGCTTGGCACCCTCAG	0.413000													4	55					0	0	1	0	0
TBC1D12	23232	broad.mit.edu	37	10	96269873	96269873	+	Silent	SNP	C	C	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr10:96269873C>T	ENST00000225235.4	+	8	1736	c.1626C>T	c.(1624-1626)gcC>gcT	p.A542A	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	542	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				ATCGAGAGGCCAGTCTGGAAT	0.358000													3	53					0	0	1	0	0
CRYL1	51084	broad.mit.edu	37	13	21013753	21013753	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr13:21013753C>A	ENST00000382812.1	-	5	579	c.351G>T	c.(349-351)aaG>aaT	p.K117N	CRYL1_ENST00000298248.7_Missense_Mutation_p.K139N|CRYL1_ENST00000480748.1_5'UTR			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	139					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CGATGCATTGCTTCACATGGA	0.368000													3	40					6.4e-05	7.4e-05	1	1	0
VIT	5212	broad.mit.edu	37	2	37036046	37036046	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr2:37036046C>A	ENST00000379242.3	+	15	2123	c.1821C>A	c.(1819-1821)aaC>aaA	p.N607K	VIT_ENST00000404084.1_Missense_Mutation_p.N544K|VIT_ENST00000389975.3_Missense_Mutation_p.N592K|VIT_ENST00000401530.1_Missense_Mutation_p.N571K|VIT_ENST00000497382.1_Missense_Mutation_p.N261K|VIT_ENST00000379241.3_Missense_Mutation_p.N570K	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	592	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CCAAGCCCAACAAGAGGAAGT	0.587000													3	35					0.004672	0.0052383	1	1	0
FAM86FP	653113	broad.mit.edu	37	12	8386973	8386973	+	RNA	SNP	C	C	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr12:8386973C>T	ENST00000427893.2	-	0	793																											AGCCAGCCTCCGCAGGACCCC	0.592000													4	46					0	0	1	0	0
ATM	472	broad.mit.edu	37	11	108117756	108117756	+	Missense_Mutation	SNP	A	A	G			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr11:108117756A>G	ENST00000278616.4	+	8	1352	c.967A>G	c.(967-969)Ata>Gta	p.I323V	ATM_ENST00000452508.2_Missense_Mutation_p.I323V	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	323			I -> V (in AT).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGTGAATGAGATAAGTCATAT	0.303000			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			5	35					0	0	1	0	0
POLE	5426	broad.mit.edu	37	12	133219172	133219172	+	Nonsense_Mutation	SNP	C	C	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr12:133219172C>T	ENST00000320574.5	-	37	4915	c.4872G>A	c.(4870-4872)tgG>tgA	p.W1624*	POLE_ENST00000535270.1_Nonsense_Mutation_p.W1597*	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1624					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CATGGCGCTGCCAGTCCAGGA	0.577000								DNA polymerases (catalytic subunits)					3	27					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630358	32630358	+	Silent	SNP	T	T	C			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr9:32630358T>C	ENST00000242310.4	-	1	5309	c.5220A>G	c.(5218-5220)ggA>ggG	p.G1740G		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1740					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GATCACCATCTCCCCCTTCTG	0.498000													4	108					0	0	1	0	0
CDK12	51755	broad.mit.edu	37	17	37667787	37667787	+	Missense_Mutation	SNP	C	C	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr17:37667787C>T	ENST00000447079.4	+	8	2705	c.2672C>T	c.(2671-2673)cCt>cTt	p.P891L	CDK12_ENST00000430627.2_Missense_Mutation_p.P891L	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	891	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTCAGTCGCCCTTACACAAAC	0.388000			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)			3	31					0	0	1	0	0
IGHG4	3503	broad.mit.edu	37	14	106091333	106091333	+	RNA	SNP	G	G	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr14:106091333G>T	ENST00000390543.2	-	0	560																											GGTGCAGGACGGTGAGGACGC	0.562000													5	334					3.59834e-05	4.29479e-05	1	1	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378000	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			5	48					0	0	1	0	0
BAZ2A	11176	broad.mit.edu	37	12	56998514	56998514	+	Missense_Mutation	SNP	G	G	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr12:56998514G>T	ENST00000179765.5	-	16	2927	c.2728C>A	c.(2728-2730)Cgc>Agc	p.R910S	BAZ2A_ENST00000549884.1_Missense_Mutation_p.R940S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R942S|BAZ2A_ENST00000379441.3_Missense_Mutation_p.R912S			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	942	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGGAAGCAGCGCAGGATCTCT	0.567000													3	22					1	1	1	1	0
FERMT3	83706	broad.mit.edu	37	11	63990660	63990660	+	Splice_Site	SNP	A	A	C			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr11:63990660A>C	ENST00000279227.5	+	14	1918	c.1823A>C	c.(1822-1824)cAg>cCg	p.Q608P	FERMT3_ENST00000345728.5_Splice_Site_p.Q604P	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	608					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GACATCCGGCAGGTGGGCCCA	0.632000													5	39					0	0	1	0	0
DPP3	10072	broad.mit.edu	37	11	66272227	66272227	+	Missense_Mutation	SNP	C	C	G			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr11:66272227C>G	ENST00000532677.1	+	17	2481	c.2080C>G	c.(2080-2082)Ccc>Gcc	p.P694A	DPP3_ENST00000360510.2_Missense_Mutation_p.P675A|DPP3_ENST00000453114.1_Missense_Mutation_p.P675A|DPP3_ENST00000531863.1_Missense_Mutation_p.P695A|DPP3_ENST00000530165.1_Missense_Mutation_p.P645A|DPP3_ENST00000541961.1_Missense_Mutation_p.P675A	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	675					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CATTGTTCAGCCCAACACTCG	0.572000													3	51					0	0	1	0	0
DNAH2	146754	broad.mit.edu	37	17	7689945	7689945	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr17:7689945C>A	ENST00000572933.1	+	41	7866	c.6406C>A	c.(6406-6408)Ctc>Atc	p.L2136I	DNAH2_ENST00000389173.2_Missense_Mutation_p.L2136I			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2136	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGAATATGACCTCAGCACCAA	0.527000													3	43					0.115264	0.118466	1	1	0
KCNMA1	3778	broad.mit.edu	37	10	78944630	78944630	+	Missense_Mutation	SNP	T	T	C			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr10:78944630T>C	ENST00000286627.5	-	4	1599	c.647A>G	c.(646-648)cAg>cGg	p.Q216R	KCNMA1_ENST00000372440.1_Missense_Mutation_p.Q216R|KCNMA1_ENST00000372443.1_Missense_Mutation_p.Q216R|KCNMA1_ENST00000404857.1_Missense_Mutation_p.Q216R|KCNMA1_ENST00000404771.3_Missense_Mutation_p.Q216R|KCNMA1_ENST00000354353.5_Missense_Mutation_p.Q216R|KCNMA1_ENST00000406533.3_Missense_Mutation_p.Q216R|KCNMA1_ENST00000286628.8_Missense_Mutation_p.Q216R	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	216					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CATGTCGATCTGTAATGTGAA	0.418000													6	45					0	0	1	0	0
PCDHGA3	56112	broad.mit.edu	37	5	140725811	140725811	+	Silent	SNP	C	C	T			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr5:140725811C>T	ENST00000253812.6	+	1	2211	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACGCCCGGCTCGCACTTTG	0.662000													5	79					0	0	1	0	0
DIAPH2	1730	broad.mit.edu	37	X	96171555	96171555	+	Missense_Mutation	SNP	T	T	G			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chrX:96171555T>G	ENST00000324765.8	+	8	1198	c.851T>G	c.(850-852)aTt>aGt	p.I284S	DIAPH2_ENST00000373061.3_Missense_Mutation_p.I284S|DIAPH2_ENST00000373054.4_Missense_Mutation_p.I280S|DIAPH2_ENST00000373049.4_Missense_Mutation_p.I284S|DIAPH2_ENST00000355827.4_Missense_Mutation_p.I284S			O60879	DIAP2_HUMAN	diaphanous-related formin 2	284	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GCTATTTGCATTGTTGGAGAA	0.323000													3	29					0	0	1	0	0
TMIGD1	388364	broad.mit.edu	37	17	28656432	28656432	+	Silent	SNP	G	G	A			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr17:28656432G>A	ENST00000328886.4	-	3	270	c.198C>T	c.(196-198)ctC>ctT	p.L66L	TMIGD1_ENST00000538566.2_Silent_p.L66L	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	66	Ig-like C2-type 1.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						CTCGGTACCAGAGCAGTTCTT	0.443000													5	72					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32630359	32630359	+	Missense_Mutation	SNP	C	C	A			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr9:32630359C>A	ENST00000242310.4	-	1	5308	c.5219G>T	c.(5218-5220)gGa>gTa	p.G1740V		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1740					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ATCACCATCTCCCCCTTCTGG	0.498000													4	110					2.56e-06	3.15733e-06	1	1	0
CD74	972	broad.mit.edu	37	5	149784266	149784266	+	Frame_Shift_Del	DEL	T	T	-			TCGA-XF-AAME-01A-12D-A42E-08	TCGA-XF-AAME-10A-01D-A42H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	481cec6f-afb6-4e68-9e49-9bf29a0ddfc9	5a8e8b6c-7ed5-49e3-b445-05cbce02c703	g.chr5:149784266delT	ENST00000353334.6	-	6	781	c.602delA	c.(601-603)aagfs	p.K201fs	CD74_ENST00000377795.3_Intron|CD74_ENST00000009530.7_Frame_Shift_Del_p.K201fs|CD74_ENST00000524315.1_Intron	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	201					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTCAGTGGGCTTTTGCTCCAA	0.587			T	ROS1	NSCLC								2	4	---	---	---	---					
