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
SLC36A1	206358	broad.mit.edu	37	5	150867642	150867642	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr5:150867642G>A	ENST00000243389.3	+	11	1481	c.1258G>A	c.(1258-1260)Gag>Aag	p.E420K	SLC36A1_ENST00000520701.1_Missense_Mutation_p.E420K	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	420					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	ACCGCTCCTGGAGGTCACCAC	0.627000													4	38					0	0	0.00024832	0	0
MYL1	4632	broad.mit.edu	37	2	211179749	211179749	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:211179749G>A	ENST00000352451.3	-	1	165	c.18C>T	c.(16-18)gaC>gaT	p.D6D		NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	6					muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTTTCTTCACGTCTTTCTTTG	0.507000													29	234					0	0	0.0024448	0	0
AKT3	10000	broad.mit.edu	37	1	243736284	243736284	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:243736284T>C	ENST00000366539.1	-	9	963	c.763A>G	c.(763-765)Att>Gtt	p.I255V	AKT3_ENST00000336199.5_Missense_Mutation_p.I255V|AKT3_ENST00000263826.5_Missense_Mutation_p.I255V|AKT3_ENST00000366540.1_Missense_Mutation_p.I255V			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	255	Protein kinase.				signal transduction	Golgi apparatus|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			GCAGAGACAATTTCTGCACCA	0.413000													12	40					0	0	0.00400662	0	0
VIP	7432	broad.mit.edu	37	6	153073384	153073384	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:153073384G>A	ENST00000367244.3	+	2	244	c.72G>A	c.(70-72)tcG>tcA	p.S24S	VIP_ENST00000367243.3_Silent_p.S24S	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	24					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		CACAGACTTCGGCATGGCCTC	0.463000													8	44					0	0	0.000442599	0	0
JPH3	57338	broad.mit.edu	37	16	87678468	87678468	+	Silent	SNP	G	G	A	rs150628659		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr16:87678468G>A	ENST00000284262.2	+	2	1229	c.987G>A	c.(985-987)ccG>ccA	p.P329P		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	329					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGACCTTCCCGGACGGCACCA	0.662000													5	60					0	0	0.000602214	0	0
MUC4	4585	broad.mit.edu	37	3	195517442	195517442	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr3:195517442G>C	ENST00000463781.3	-	2	1468	c.1009C>G	c.(1009-1011)Caa>Gaa	p.Q337E	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q337E	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	342					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGTTGATTTGAGATACTCTG	0.458000													17	215					0	0	0.00074312	0	0
COASY	80347	broad.mit.edu	37	17	40714773	40714773	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:40714773A>G	ENST00000393818.2	+	1	589	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	COASY_ENST00000590958.1_Missense_Mutation_p.M74V|COASY_ENST00000449624.1_Intron|COASY_ENST00000420359.1_Missense_Mutation_p.M45V|COASY_ENST00000421097.2_Missense_Mutation_p.M45V	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	45					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GCAGCCGGGCATGAGCCTGGA	0.662000													5	86					0	0	0.000602214	0	0
ANKZF1	55139	broad.mit.edu	37	2	220098566	220098566	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:220098566G>A	ENST00000323348.5	+	8	1123	c.949G>A	c.(949-951)Ggg>Agg	p.G317R	ANKZF1_ENST00000409849.1_Missense_Mutation_p.G107R|ANKZF1_ENST00000410034.3_Missense_Mutation_p.G317R	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	317						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCTGCAAAGGGGGGATCCCCG	0.597000													7	60					0	0	0.00198382	0	0
KIAA1462	57608	broad.mit.edu	37	10	30315782	30315782	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:30315782G>A	ENST00000375377.1	-	3	3396	c.3295C>T	c.(3295-3297)Ctc>Ttc	p.L1099F		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1099										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CCCGGCAGGAGGGACTCCACC	0.627000													9	105					0	0	0.000442599	0	0
SPRYD3	84926	broad.mit.edu	37	12	53471030	53471030	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr12:53471030G>T	ENST00000301463.4	-	2	125	c.39C>A	c.(37-39)aaC>aaA	p.N13K	SPRYD3_ENST00000547837.1_Missense_Mutation_p.N50K	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	13										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CATCCATCTTGTTCATGAGAA	0.547000													7	26					1.06961e-07	5.62884e-07	0.00307968	1	0
KCNH1	3756	broad.mit.edu	37	1	210857106	210857106	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:210857106G>A	ENST00000367007.4	-	11	2575	c.2406C>T	c.(2404-2406)ggC>ggT	p.G802G	KCNH1_ENST00000271751.4_Silent_p.G829G	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	829					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TGGCACAATCGCCCCCGCCCC	0.642000													13	89					0	0	0.00185496	0	0
P2RX1	5023	broad.mit.edu	37	17	3819509	3819509	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:3819509C>T	ENST00000225538.3	-	1	285	c.11G>A	c.(10-12)cGg>cAg	p.R4Q		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	4					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CTCCTGGAACCGCCGTGCCAT	0.642000													17	108					0	0	0.000958276	0	0
SFI1	9814	broad.mit.edu	37	22	32007798	32007798	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr22:32007798G>A	ENST00000432498.1	+	23	2762	c.2369G>A	c.(2368-2370)cGg>cAg	p.R790Q	SFI1_ENST00000414585.1_Missense_Mutation_p.R668Q|SFI1_ENST00000540643.1_Missense_Mutation_p.R766Q|SFI1_ENST00000443326.1_Missense_Mutation_p.R739Q|SFI1_ENST00000443011.1_Missense_Mutation_p.R668Q|SFI1_ENST00000400288.2_Missense_Mutation_p.R821Q|SFI1_ENST00000400289.1_Missense_Mutation_p.R739Q	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	821					G2/M transition of mitotic cell cycle	centriole|cytosol		p.R821Q(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						AGACTCAGCCGGACCTGCTTC	0.617000													5	39					0	0	0.000602214	0	0
ABCC1	4363	broad.mit.edu	37	16	16205306	16205306	+	Silent	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr16:16205306C>T	ENST00000399408.2	+	23	3151	c.2976C>T	c.(2974-2976)ttC>ttT	p.F992F	ABCC1_ENST00000349029.5_Silent_p.F867F|ABCC1_ENST00000345148.5_Silent_p.F982F|ABCC1_ENST00000399410.3_Silent_p.F982F|ABCC1_ENST00000346370.5_Silent_p.F926F|ABCC1_ENST00000351154.5_Silent_p.F923F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	982	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TCTTCCTTTTCATGTGTAACC	0.537000													13	135					0	0	0.00136819	0	0
ZNF30	90075	broad.mit.edu	37	19	35435248	35435248	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr19:35435248G>T	ENST00000439785.1	+	5	1825	c.1381G>T	c.(1381-1383)Gaa>Taa	p.E461*	ZNF30_ENST00000426813.2_Nonsense_Mutation_p.E379*|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Nonsense_Mutation_p.E461*|ZNF30_ENST00000601142.1_Nonsense_Mutation_p.E460*	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		TGAGTGTAAGGAATGTGGCAA	0.428000													7	41					2.7689e-08	1.47558e-07	0.00198382	1	0
RPLP0P6	220717	broad.mit.edu	37	2	38709227	38709227	+	RNA	SNP	C	C	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:38709227C>G	ENST00000417039.1	-	0	696																											GGAGAAACTGCTGCCTCATAT	0.577000													7	57					0	0	0.00307968	0	0
RUSC2	9853	broad.mit.edu	37	9	35555624	35555624	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:35555624G>A	ENST00000455600.1	+	3	3151	c.2582G>A	c.(2581-2583)cGa>cAa	p.R861Q		NM_001135999.1	NP_001129471.1	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	861						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCTCCTGGCGATCTGGCCTC	0.637000													6	50					0	0	0.00307968	0	0
EEF1E1	9521	broad.mit.edu	37	6	8080226	8080226	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:8080226T>C	ENST00000379715.5	-	4	478	c.422A>G	c.(421-423)aAt>aGt	p.N141S	EEF1E1_ENST00000429723.2_Intron|EEF1E1-MUTED_ENST00000397456.2_Intron	NM_004280.4	NP_004271.1	O43324	MCA3_HUMAN	eukaryotic translation elongation factor 1 epsilon 1	141	GST C-terminal.				negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation	cytosol|nucleus				endometrium(1)|prostate(1)	2	Ovarian(93;0.0398)					GCGAGACACATTAAGATATTT	0.368000													3	70					0	0	6.4e-05	0	0
C10orf54	64115	broad.mit.edu	37	10	73521632	73521632	+	Silent	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:73521632G>T	ENST00000394957.3	-	2	292	c.234C>A	c.(232-234)ggC>ggA	p.G78G	CDH23_ENST00000224721.6_Intron|C10orf54_ENST00000481568.1_5'UTR	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	78	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						TCTGCACCTCGCCCCTCGAGC	0.647000													5	47					0.000602214	0.00301824	0.000602214	1	0
AXIN2	8313	broad.mit.edu	37	17	63537655	63537655	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:63537655C>T	ENST00000307078.5	-	4	1290	c.977G>A	c.(976-978)cGt>cAt	p.R326H	AXIN2_ENST00000375702.5_Missense_Mutation_p.R326H|CTD-2535L24.2_ENST00000577662.1_3'UTR	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	326					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						ACTGCCCACACGATAAGGAGG	0.478000									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				11	85					0	0	0.000978159	0	0
NRIP1	8204	broad.mit.edu	37	21	16339480	16339480	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr21:16339480A>G	ENST00000400202.1	-	3	1746	c.1034T>C	c.(1033-1035)gTg>gCg	p.V345A	NRIP1_ENST00000318948.4_Missense_Mutation_p.V345A|NRIP1_ENST00000400199.1_Missense_Mutation_p.V345A			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	345					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATTTTGAAACACTGTAGCACT	0.393000													12	73					0	0	0.00136819	0	0
XPO7	23039	broad.mit.edu	37	8	21857170	21857170	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr8:21857170G>T	ENST00000434536.1	+	24	2896	c.2794G>T	c.(2794-2796)Gga>Tga	p.G932*	XPO7_ENST00000252512.9_Nonsense_Mutation_p.G923*|XPO7_ENST00000433566.4_Nonsense_Mutation_p.G924*			Q9UIA9	XPO7_HUMAN	exportin 7	923					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		CATTTCTGAAGGACTTACTGC	0.433000													5	45					3.59834e-05	0.000184744	0.00116845	1	0
RAPGEF5	9771	broad.mit.edu	37	7	22190088	22190088	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr7:22190088G>A	ENST00000344041.6	-	18	1674	c.1362C>T	c.(1360-1362)atC>atT	p.I454I	RAPGEF5_ENST00000401957.2_Silent_p.I304I	NM_012294.3	NP_036426.3	Q92565	RPGF5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 5	304	Ras-GEF.				nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity	p.I456M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						GGGATTTGGAGATGACTAAGT	0.393000													4	90					0	0	0.000602214	0	0
FRG1BP	284802	broad.mit.edu	37	20	29625875	29625875	+	Missense_Mutation	SNP	T	T	C	rs143761036	by1000genomes	TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr20:29625875T>C	ENST00000278882.3	+	5	499	c.119T>C	c.(118-120)aTc>aCc	p.I40T	FRG1B_ENST00000358464.4_Missense_Mutation_p.I40T|FRG1B_ENST00000439954.2_Missense_Mutation_p.I45T														p.I40T(4)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGTACAGAATCGCCCTGAAA	0.358000													3	51					0	0	0.00024832	0	0
INPP5J	27124	broad.mit.edu	37	22	31522415	31522415	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr22:31522415C>T	ENST00000331075.5	+	3	1374	c.1325C>T	c.(1324-1326)aCa>aTa	p.T442I	INPP5J_ENST00000405300.1_Missense_Mutation_p.T75I|INPP5J_ENST00000412277.2_Missense_Mutation_p.T375I|INPP5J_ENST00000404390.3_Missense_Mutation_p.T74I|INPP5J_ENST00000400294.2_Missense_Mutation_p.T75I			Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	442	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GACGATGTCACATCCCTCCTC	0.637000													10	141					0	0	0.00136819	0	0
RAB3GAP1	22930	broad.mit.edu	37	2	135920601	135920601	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:135920601G>T	ENST00000264158.8	+	22	2579	c.2536G>T	c.(2536-2538)Gct>Tct	p.A846S	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.A802S|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.A846S	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	846						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		CATTGCCAGAGCTCGGTCACT	0.423000													11	110					7.03913e-09	3.79932e-08	0.00136819	1	0
SMAD4	4089	broad.mit.edu	37	18	48581281	48581281	+	Nonsense_Mutation	SNP	C	C	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr18:48581281C>G	ENST00000342988.3	+	5	1123	c.585C>G	c.(583-585)taC>taG	p.Y195*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Y195*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Y195*|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	195					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(3)|p.Y195fs*1(1)|p.Y195*(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAGAGACATACAGCACCCCAG	0.483000													10	88					0	0	0.000673444	0	0
SPATA31D1	389763	broad.mit.edu	37	9	84606763	84606763	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:84606763G>T	ENST00000344803.2	+	4	1425	c.1378G>T	c.(1378-1380)Gtt>Ttt	p.V460F		NM_001001670.2	NP_001001670.1			SPATA31 subfamily D, member 1																		CTCAATTGCTGTTAAGCATGA	0.418000													11	73					3.86212e-05	0.000195898	0.000673444	1	0
PIK3CA	5290	broad.mit.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	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)			8	50					0	0	0.00307968	0	0
ACACB	32	broad.mit.edu	37	12	109617746	109617746	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr12:109617746G>A	ENST00000338432.7	+	11	1791	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	ACACB_ENST00000377854.5_Missense_Mutation_p.V558M|ACACB_ENST00000377848.3_Missense_Mutation_p.V558M|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	558	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGCCAAGACCGTGGGCTATGT	0.527000													6	53					0	0	0.00307968	0	0
ZNF143	7702	broad.mit.edu	37	11	9500065	9500065	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr11:9500065G>A	ENST00000396602.2	+	6	621	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	ZNF143_ENST00000396604.1_Missense_Mutation_p.G167S|ZNF143_ENST00000299606.2_Missense_Mutation_p.G140S|ZNF143_ENST00000396597.3_Missense_Mutation_p.G137S|ZNF143_ENST00000530463.1_Missense_Mutation_p.G167S	NM_003442.5	NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	168					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GACAGTGGCAGGTCTGCACAC	0.493000													8	90					0	0	0.00307968	0	0
ANK3	288	broad.mit.edu	37	10	62023666	62023666	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:62023666G>A	ENST00000280772.1	-	6	817	c.626C>T	c.(625-627)gCg>gTg	p.A209V	ANK3_ENST00000503366.1_Missense_Mutation_p.A192V|ANK3_ENST00000373827.2_Missense_Mutation_p.A203V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	209					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCGGGCCGCGATATGAAG	0.552000													12	51					0	0	0.00136819	0	0
LCE2D	353141	broad.mit.edu	37	1	152636834	152636834	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:152636834C>T	ENST00000368784.1	+	2	308	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_178430.2	NP_848517.1	Q5TA82	LCE2D_HUMAN	late cornified envelope 2D	85	Cys-rich.				keratinization					large_intestine(1)|lung(7)|prostate(2)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACCGGCGCCGGCACCAGAG	0.682000													8	86					0	0	0.000274275	0	0
PIH1D1	55011	broad.mit.edu	37	19	49949860	49949860	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr19:49949860G>A	ENST00000262265.5	-	8	1014	c.779C>T	c.(778-780)cCg>cTg	p.P260L	PIH1D1_ENST00000596049.1_Missense_Mutation_p.P260L|PIH1D1_ENST00000602226.1_5'UTR	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	260					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GATCTGCAGCGGGATATAAGC	0.632000													10	101					0	0	0.000673444	0	0
PSME4	23198	broad.mit.edu	37	2	54119989	54119989	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:54119989T>C	ENST00000404125.1	-	36	4202	c.4147A>G	c.(4147-4149)Ata>Gta	p.I1383V	PSME4_ENST00000421748.2_Missense_Mutation_p.I527V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1383					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AAACCAGCTATAATTTCTGCA	0.383000													4	69					0	0	0.00024832	0	0
GLB1	2720	broad.mit.edu	37	3	33038739	33038739	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr3:33038739G>A	ENST00000307363.5	-	16	1976	c.1832C>T	c.(1831-1833)tCg>tTg	p.S611L	GLB1_ENST00000399402.3_Missense_Mutation_p.S581L|GLB1_ENST00000307377.8_Missense_Mutation_p.S480L|GLB1_ENST00000445488.2_Missense_Mutation_p.S659L	NM_000404.2	NP_000395.2	P16278	BGAL_HUMAN	galactosidase, beta 1	611					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GTTTGGGGCCGAGGTCATCAG	0.572000													7	66					0	0	0.00307968	0	0
CYP4F8	11283	broad.mit.edu	37	19	15739591	15739591	+	RNA	SNP	C	C	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr19:15739591C>A	ENST00000441682.2	+	0	1396							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	p.F444F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCTTCCGCTTCGACCCAGAAA	0.602000													10	59					4.84862e-15	2.68588e-14	0.000978159	1	0
LRIF1	55791	broad.mit.edu	37	1	111494604	111494604	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:111494604G>A	ENST00000369763.4	-	2	1292	c.902C>T	c.(901-903)aCg>aTg	p.T301M	RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000494675.1_Intron|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	301					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding			endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						AAGAGATGGCGTAAAAGGCTG	0.343000													6	66					0	0	0.00198382	0	0
KDM4C	23081	broad.mit.edu	37	9	6893144	6893144	+	Missense_Mutation	SNP	A	A	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:6893144A>T	ENST00000381309.3	+	8	1398	c.833A>T	c.(832-834)cAt>cTt	p.H278L	KDM4C_ENST00000381306.3_Missense_Mutation_p.H278L|KDM4C_ENST00000442236.2_Missense_Mutation_p.H97L|KDM4C_ENST00000543771.1_Missense_Mutation_p.H278L|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000535193.1_Missense_Mutation_p.H300L|KDM4C_ENST00000536108.1_Missense_Mutation_p.H97L	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	278	JmjC.				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						TATGGCTACCATGCTGGTTTT	0.368000													7	80					0	0	0.00198382	0	0
MDN1	23195	broad.mit.edu	37	6	90380712	90380712	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:90380712A>G	ENST00000369393.3	-	83	13997	c.13882T>C	c.(13882-13884)Tct>Cct	p.S4628P	MDN1_ENST00000428876.1_Missense_Mutation_p.S4628P|MDN1_ENST00000468568.1_5'UTR			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4628					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GTTGCTAAAGACATGGTCAGG	0.532000													4	81					0	0	0.00024832	0	0
HIST1H1C	3006	broad.mit.edu	37	6	26056552	26056552	+	Silent	SNP	C	C	T	rs139532972	byFrequency	TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:26056552C>T	ENST00000343677.2	-	1	147	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	35					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GGGGACCAGACGCCTTACGAG	0.632000													9	91					0	0	0.000274275	0	0
OPN1LW	5956	broad.mit.edu	37	X	153421950	153421950	+	Missense_Mutation	SNP	A	A	T	rs145631912	byFrequency	TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chrX:153421950A>T	ENST00000369951.4	+	5	986	c.926A>T	c.(925-927)tAc>tTc	p.Y309F		NM_020061.4	NP_064445.1	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	309			Y -> F (in dbSNP:rs1065441).		phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGCCGGCCTACTTTGCCAAA	0.537000													45	416					0	0	0.00361006	0	0
MLLT4	4301	broad.mit.edu	37	6	168352492	168352492	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:168352492G>A	ENST00000366806.2	+	30	4579	c.4437G>A	c.(4435-4437)cgG>cgA	p.R1479R	MLLT4_ENST00000447894.2_Silent_p.R1479R|MLLT4_ENST00000392108.3_Silent_p.R1479R|MLLT4_ENST00000392112.1_Silent_p.R1462R|MLLT4_ENST00000400822.3_Silent_p.R1478R|MLLT4_ENST00000344191.4_Silent_p.R1479R|MLLT4_ENST00000351017.4_Silent_p.R1486R			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1479					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAGTCATTCGGGAGCTGCAGC	0.577000			T	MLL	AL								8	81					0	0	0.00307968	0	0
PIP4K2A	5305	broad.mit.edu	37	10	22898587	22898587	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:22898587G>A	ENST00000376573.4	-	2	432	c.204C>T	c.(202-204)gcC>gcT	p.A68A	PIP4K2A_ENST00000422321.1_5'UTR|PIP4K2A_ENST00000545335.1_Silent_p.A9A	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	68	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						TTTTTGAATAGGCTTTGAAGT	0.353000													7	53					0	0	0.000673444	0	0
EML5	161436	broad.mit.edu	37	14	89206756	89206756	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr14:89206756A>G	ENST00000554922.1	-	5	934	c.686T>C	c.(685-687)aTa>aCa	p.I229T	EML5_ENST00000352093.5_Missense_Mutation_p.I229T|EML5_ENST00000380664.5_Missense_Mutation_p.I229T	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	229						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TATTGTTCGTATAAGATTGAT	0.363000													5	47					0	0	0.000602214	0	0
LRP4	4038	broad.mit.edu	37	11	46898166	46898166	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr11:46898166G>A	ENST00000378623.1	-	25	3629	c.3387C>T	c.(3385-3387)ctC>ctT	p.L1129L		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1129					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CATCAACCGCGAGCCCATCTG	0.537000													11	85					0	0	0.00136819	0	0
MARCO	8685	broad.mit.edu	37	2	119726797	119726797	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:119726797G>A	ENST00000327097.4	+	2	294	c.159G>A	c.(157-159)ctG>ctA	p.L53L	MARCO_ENST00000541757.1_5'UTR	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	53					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						TCATCTACCTGATCCTGCTCA	0.597000													9	73					0	0	0.000978159	0	0
PLAGL1	5325	broad.mit.edu	37	6	144263171	144263171	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:144263171T>C	ENST00000360537.2	-	5	2695	c.782A>G	c.(781-783)cAt>cGt	p.H261R	PLAGL1_ENST00000354765.2_Missense_Mutation_p.H261R|PLAGL1_ENST00000367572.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000437412.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000367571.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000416623.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000392307.1_Missense_Mutation_p.H209R|PLAGL1_ENST00000392309.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000429150.1_Missense_Mutation_p.H261R|PLAGL1_ENST00000444202.1_Missense_Mutation_p.H261R			Q9UM63	PLAL1_HUMAN	pleiomorphic adenoma gene-like 1	261					cell cycle arrest|induction of apoptosis|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(3)|stomach(2)	13				OV - Ovarian serous cystadenocarcinoma(155;5.74e-07)|GBM - Glioblastoma multiforme(68;0.0885)		GGTGAGGCTATGGACCTCAGC	0.612000											OREG0017707	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	19	123					0	0	0.00074312	0	0
CHST6	4166	broad.mit.edu	37	16	75512895	75512895	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr16:75512895G>A	ENST00000332272.4	-	3	1011	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R278W	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	278					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGCGGCTCCCGCGCCAGGTCC	0.667000													6	51					0	0	0.00116845	0	0
PSD	5662	broad.mit.edu	37	10	104164346	104164346	+	Silent	SNP	G	G	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr10:104164346G>C	ENST00000020673.5	-	15	3220	c.2694C>G	c.(2692-2694)ctC>ctG	p.L898L	PSD_ENST00000406432.1_Silent_p.L898L	NM_001270966.1|NM_002779.3	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	898					regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		CTACCTGGGAGAGGCGGGTGG	0.612000													3	66					0	0	6.4e-05	0	0
MUSK	4593	broad.mit.edu	37	9	113563104	113563104	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:113563104C>T	ENST00000416899.2	+	13	2548	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	MUSK_ENST00000189978.5_Nonsense_Mutation_p.R816*|MUSK_ENST00000374448.4_Nonsense_Mutation_p.R816*			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	816	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTACTACGTGCGAGATGGCAA	0.557000													4	34					0	0	0.000602214	0	0
GSTM2	2946	broad.mit.edu	37	1	110211933	110211933	+	Missense_Mutation	SNP	A	A	G	rs2227960	byFrequency	TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:110211933A>G	ENST00000369831.2	+	4	293	c.199A>G	c.(199-201)Act>Gct	p.T67A	GSTM2_ENST00000460717.3_Missense_Mutation_p.T67A|GSTM2_ENST00000369829.2_Missense_Mutation_p.T67A|GSTM2_ENST00000369827.3_Missense_Mutation_p.T65A|GSTM2_ENST00000442650.1_Missense_Mutation_p.T67A|GSTM2_ENST00000464206.1_3'UTR|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000241337.4_Missense_Mutation_p.T67A					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GATTGATGGGACTCACAAGAT	0.572000													23	221					0	0	0.000720815	0	0
FAT1	2195	broad.mit.edu	37	4	187560905	187560905	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr4:187560905G>A	ENST00000441802.2	-	4	3822	c.3613C>T	c.(3613-3615)Cga>Tga	p.R1205*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1205	Cadherin 10.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGCTGTTCTCGGTCTAGCTTC	0.308000										HNSCC(5;0.00058)			12	76					0	0	0.00185496	0	0
LIN28A	79727	broad.mit.edu	37	1	26751932	26751932	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:26751932C>T	ENST00000326279.6	+	3	481	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	LIN28A_ENST00000254231.4_Missense_Mutation_p.R123W	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	123					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GAGTGAGAGGCGGCCAAAAGG	0.522000													9	108					0	0	0.000673444	0	0
YTHDF3	253943	broad.mit.edu	37	8	64099642	64099642	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr8:64099642G>A	ENST00000539294.1	+	4	1386	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.R168H|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	358												Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			GTAGCTCCTCGTAACAGGGGA	0.547000													7	18					0	0	0.00198382	0	0
SMAD4	4089	broad.mit.edu	37	18	48581208	48581208	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr18:48581208C>T	ENST00000342988.3	+	5	1050	c.512C>T	c.(511-513)tCg>tTg	p.S171L	SMAD4_ENST00000398417.2_Missense_Mutation_p.S171L|SMAD4_ENST00000588745.1_Missense_Mutation_p.S171L|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_3'UTR	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	171					BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(3)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGACAGCCATCGTTGTCCACT	0.403000													5	51					0	0	0.00307968	0	0
PTPN12	5782	broad.mit.edu	37	7	77256908	77256908	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr7:77256908G>A	ENST00000248594.6	+	13	2184	c.1912G>A	c.(1912-1914)Gaa>Aaa	p.E638K	PTPN12_ENST00000435495.2_Missense_Mutation_p.E508K|PTPN12_ENST00000415482.2_Missense_Mutation_p.E519K	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	638						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						CACTAGTACTGAAAGCATTTC	0.388000													4	47					0	0	0.00024832	0	0
CNGA3	1261	broad.mit.edu	37	2	99012949	99012949	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:99012949G>A	ENST00000393504.1	+	8	1733	c.1316G>A	c.(1315-1317)cGg>cAg	p.R439Q	CNGA3_ENST00000272602.2_Missense_Mutation_p.R439Q|CNGA3_ENST00000409937.1_Missense_Mutation_p.R443Q|CNGA3_ENST00000436404.2_Missense_Mutation_p.R421Q	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	439			R -> W (in ACHM2; does not reveal any detectable calcium influx upon agonist application at 37 degrees Celsius; the channel function could be restored by incubating the transfected cells at 27 degrees Celsius; the dose-response relationship for cGMP-activation is shifted toward a lower cGMP concentration; the dose-response relationship of the mutant CNGA3 + CNGB3 is similar to that of the wild-type protein; coexpression of the CNGB3 subunit compensate completely for the slightly higher apparent cGMP sensitivity of homomers; the channel density into the cell membrane is considerably improved by decreasing the cultivation temparature).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CGGGTTATCCGGTGGTTTGAC	0.542000													4	38					0	0	0.00116845	0	0
TIAM2	26230	broad.mit.edu	37	6	155565824	155565824	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:155565824G>A	ENST00000461783.3	+	20	4723	c.3450G>A	c.(3448-3450)atG>atA	p.M1150I	TIAM2_ENST00000529824.2_Missense_Mutation_p.M1150I|TIAM2_ENST00000360366.4_Missense_Mutation_p.M1174I|TIAM2_ENST00000367174.2_Missense_Mutation_p.M526I|TIAM2_ENST00000456144.1_Missense_Mutation_p.M1150I|TIAM2_ENST00000318981.5_Missense_Mutation_p.M1150I|TIAM2_ENST00000528391.2_Missense_Mutation_p.M486I|TIAM2_ENST00000275246.7_Missense_Mutation_p.M75I|TIAM2_ENST00000456877.2_Missense_Mutation_p.M462I			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1150	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCCAGAGATGCTTGAGTTTC	0.438000													8	104					0	0	0.000274275	0	0
TP53	7157	broad.mit.edu	37	17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532000		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)			4	28					0	0	0.00024832	0	0
SSH1	54434	broad.mit.edu	37	12	109194621	109194621	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr12:109194621G>A	ENST00000326495.5	-	12	1176	c.1083C>T	c.(1081-1083)taC>taT	p.Y361Y	SSH1_ENST00000360239.3_Silent_p.Y49Y|SSH1_ENST00000326470.5_Silent_p.Y372Y|SSH1_ENST00000551165.1_Silent_p.Y361Y	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	361	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCTCTTCATCGTAGACTCGGA	0.398000													14	114					0	0	0.000566183	0	0
ATP12A	479	broad.mit.edu	37	13	25265211	25265211	+	Silent	SNP	G	G	A	rs61739266	byFrequency	TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr13:25265211G>A	ENST00000218548.6	+	8	1242	c.909G>A	c.(907-909)acG>acA	p.T303T	ATP12A_ENST00000381946.3_Silent_p.T297T	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	297					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.T297T(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	ATGAGAAGACGCCCATTGCCA	0.522000													9	69					0	0	0.000274275	0	0
VPS72	6944	broad.mit.edu	37	1	151156861	151156861	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:151156861C>T	ENST00000354473.4	-	4	530	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	VPS72_ENST00000496809.1_5'UTR	NM_001271087.1|NM_005997.1	NP_001258016.1|NP_005988.1	Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	165					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGTTAGTGGCCGCTCACAGTG	0.537000													12	157					0	0	0.000978159	0	0
IARS	3376	broad.mit.edu	37	9	95004546	95004546	+	Missense_Mutation	SNP	T	T	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr9:95004546T>A	ENST00000375643.3	-	29	3333	c.3067A>T	c.(3067-3069)Aat>Tat	p.N1023Y	IARS_ENST00000375627.1_Missense_Mutation_p.N76Y|IARS_ENST00000447699.2_Missense_Mutation_p.N913Y|IARS_ENST00000375629.3_Missense_Mutation_p.N76Y|IARS_ENST00000443024.2_Missense_Mutation_p.N1023Y|IARS_ENST00000474340.1_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	1023					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ATAACACTATTCAGATATGTT	0.368000													7	33					0	0	0.00198382	0	0
HIVEP1	3096	broad.mit.edu	37	6	12161735	12161735	+	Missense_Mutation	SNP	A	A	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr6:12161735A>G	ENST00000379388.2	+	8	6883	c.6551A>G	c.(6550-6552)gAt>gGt	p.D2184G	HIVEP1_ENST00000541134.1_Missense_Mutation_p.D49G	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2184					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GATGGCCCAGATGAGGATGAC	0.453000													9	74					0	0	0.000274275	0	0
PPP1R9A	55607	broad.mit.edu	37	7	94539551	94539551	+	Silent	SNP	A	A	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr7:94539551A>G	ENST00000289495.5	+	1	342	c.126A>G	c.(124-126)gaA>gaG	p.E42E	PPP1R9A_ENST00000424654.1_Silent_p.E42E|PPP1R9A_ENST00000433360.1_Silent_p.E42E|PPP1R9A_ENST00000433881.1_Silent_p.E42E|PPP1R9A_ENST00000456331.2_Silent_p.E42E|PPP1R9A_ENST00000340694.4_Silent_p.E42E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	42	Actin-binding.					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CAGATGGGGAACAAAAAACAA	0.453000										HNSCC(28;0.073)			4	32					0	0	0.000602214	0	0
AEBP1	165	broad.mit.edu	37	7	44151908	44151908	+	Silent	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr7:44151908G>A	ENST00000223357.3	+	17	2510	c.2205G>A	c.(2203-2205)tcG>tcA	p.S735S	AEBP1_ENST00000450684.2_Silent_p.S310S	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	735	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCTACCTTTCGCCAGATGCCA	0.622000													5	42					0	0	0.000602214	0	0
RPS28	6234	broad.mit.edu	37	19	8386936	8386936	+	Missense_Mutation	SNP	C	C	G			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr19:8386936C>G	ENST00000600659.2	+	3	218	c.187C>G	c.(187-189)Cga>Gga	p.R63G		NM_001031.4	NP_001022.1	P62857	RS28_HUMAN	ribosomal protein S28	63					endocrine pancreas development|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|structural constituent of ribosome										GGAGTCAGAGCGAGAAGCCCG	0.592000													3	17					0	0	6.4e-05	0	0
ZNF721	170960	broad.mit.edu	37	4	466365	466365	+	Splice_Site	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr4:466365T>C	ENST00000511833.2	-	2	226	c.34_splice	c.e2+1	p.L11_splice	ZNF721_ENST00000506646.1_Splice_Site_p.L43_splice|ZNF721_ENST00000338977.5_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_5'UTR	NM_133474.3	NP_597731.2			zinc finger protein 721									p.L11L(1)		endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TATCCTCACCTAGGGAGACCA	0.368000													3	78					0	0	0.00024832	0	0
REG4	83998	broad.mit.edu	37	1	120337248	120337248	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:120337248C>T	ENST00000354219.1	-	7	909	c.470G>A	c.(469-471)cGa>cAa	p.R157Q	REG4_ENST00000256585.5_Missense_Mutation_p.R157Q|REG4_ENST00000530654.1_3'UTR	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	157						extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		GCTCTATGGTCGGTACTTGCA	0.428000													14	195					0	0	0.00074312	0	0
COL22A1	169044	broad.mit.edu	37	8	139635989	139635989	+	Missense_Mutation	SNP	G	G	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr8:139635989G>C	ENST00000303045.6	-	52	4203	c.3757C>G	c.(3757-3759)Ccc>Gcc	p.P1253A	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1233A|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1253	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTCCAGGGGGACCCGGCTTT	0.438000										HNSCC(7;0.00092)			53	171					0	0	0.00361006	0	0
DRD5	1816	broad.mit.edu	37	4	9784380	9784380	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr4:9784380G>A	ENST00000304374.2	+	1	1123	c.727G>A	c.(727-729)Gtg>Atg	p.V243M		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	243					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CATCATGATCGTGACCTACAC	0.607000													8	45					0	0	0.00307968	0	0
SLITRK5	26050	broad.mit.edu	37	13	88328670	88328670	+	Missense_Mutation	SNP	C	C	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr13:88328670C>T	ENST00000325089.6	+	2	1246	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	SLITRK5_ENST00000400028.3_Missense_Mutation_p.R102C	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	343						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					GCCCAGGGTGCGCCCCACCTC	0.597000													8	93					0	0	0.00307968	0	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			8	30					0	0	0.00307968	0	0
ADAMTS8	11095	broad.mit.edu	37	11	130278733	130278733	+	Missense_Mutation	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr11:130278733G>T	ENST00000257359.6	-	7	2559	c.1853C>A	c.(1852-1854)tCc>tAc	p.S618Y		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	618	Cys-rich.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		GTCCCGGGGGGACACCCCAGC	0.562000													14	111					2.32078e-09	1.2689e-08	0.00316338	1	0
PARP8	79668	broad.mit.edu	37	5	50057654	50057654	+	Splice_Site	SNP	G	G	T			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr5:50057654G>T	ENST00000281631.5	+	6	503		c.e6-1		PARP8_ENST00000514342.2_Splice_Site|PARP8_ENST00000514067.2_Splice_Site|PARP8_ENST00000511363.2_Splice_Site|PARP8_ENST00000505697.2_Splice_Site|PARP8_ENST00000503750.2_Splice_Site|PARP8_ENST00000505554.1_Splice_Site	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8							intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				ATTATTTTAAGGAATCAAGAC	0.333000													6	62					2.0095e-06	1.04444e-05	0.00198382	1	0
TULP3	7289	broad.mit.edu	37	12	3048518	3048518	+	Missense_Mutation	SNP	G	G	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr12:3048518G>A	ENST00000448120.2	+	11	1288	c.1237G>A	c.(1237-1239)Gtg>Atg	p.V413M	TULP3_ENST00000397132.2_Missense_Mutation_p.V413M	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	413					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			GGCAGATGACGTGTTCACACT	0.428000													11	112					0	0	0.000978159	0	0
PKD1	5310	broad.mit.edu	37	16	2153543	2153543	+	Missense_Mutation	SNP	T	T	C			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr16:2153543T>C	ENST00000262304.4	-	23	8723	c.8515A>G	c.(8515-8517)Atc>Gtc	p.I2839V	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Missense_Mutation_p.I2839V	NM_001009944.2	NP_001009944.2	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2839					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TAGTTGCTGATATAGCCAAAG	0.612000													7	86					0	0	0.00198382	0	0
PUM1	9698	broad.mit.edu	37	1	31437649	31437650	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr1:31437649_31437650insA	ENST00000373747.3	-	14	2296_2297	c.2197_2198insT	c.(2197-2199)taafs	p.*733fs	PUM1_ENST00000257075.5_Frame_Shift_Ins_p.*732fs|PUM1_ENST00000440538.2_Frame_Shift_Ins_p.*706fs|PUM1_ENST00000426105.2_Frame_Shift_Ins_p.*732fs|PUM1_ENST00000424085.2_Frame_Shift_Ins_p.*490fs|PUM1_ENST00000423018.2_Frame_Shift_Ins_p.*588fs|PUM1_ENST00000373741.4_Frame_Shift_Ins_p.*768fs|PUM1_ENST00000373742.2_Frame_Shift_Ins_p.*673fs	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	732	Ser-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGCCGTTATAAAAACTGTGT	0.559													13	147	---	---	---	---					
RGPD4	285190	broad.mit.edu	37	2	108488296	108488297	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr2:108488296_108488297insA	ENST00000408999.3	+	20	3913_3914	c.3836_3837insA	c.(3835-3837)aaafs	p.K1279fs	RGPD4_ENST00000354986.4_Frame_Shift_Ins_p.K1279fs	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1279					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AGCCCTGTGAGAAAAAATCTTT	0.396													32	391	---	---	---	---					
FAT2	2196	broad.mit.edu	37	5	150921902	150921902	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CQ-6222-01A-11D-1912-08	TCGA-CQ-6222-10A-01D-1912-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	de2c492f-5cd8-4330-a5de-36f693ec31af	930e8d3f-2ca9-4a88-9397-27e741a23e48	g.chr5:150921902delT	ENST00000261800.5	-	9	8798	c.8786delA	c.(8785-8787)agfs	p.K2929fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2929	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCAGGGTCTTTAGAGTCGC	0.493													19	182	---	---	---	---					
