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
KIAA1751	85452	broad.mit.edu	37	1	1888126	1888126	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:1888126G>A	uc001aim.1	-	16	2105	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	KIAA1751_uc009vkz.1_Missense_Mutation_p.T650M	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	650								p.T650S(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTTGAAAGTCGTGCCCAAGCC	0.582												
TAS1R2	80834	broad.mit.edu	37	1	19166593	19166593	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:19166593G>A	uc001bba.1	-	5	2021	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	674					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCCTGGTAGCGGACCCAGTAG	0.572												
GRHL3	57822	broad.mit.edu	37	1	24657929	24657929	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:24657929C>T	uc021oiw.1	+	1	261	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	GRHL3_uc001bix.3_Missense_Mutation_p.R11W|GRHL3_uc021oix.1_5'UTR|GRHL3_uc001biy.3_Missense_Mutation_p.R16W|GRHL3_uc001biz.3_Intron	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	11					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAGGTCTGTGCGGCTGCTAAA	0.512												
KPRP	448834	broad.mit.edu	37	1	152732729	152732729	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:152732729G>A	uc001fal.1	+	1	723	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	KPRP_uc021ozf.1_Missense_Mutation_p.R222Q	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	222						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCAGTATCGGTCCCGGACT	0.582												
OR2L8	391190	broad.mit.edu	37	1	248112496	248112496	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:248112496C>A	uc001idt.1	+	0	337	c.337C>A	c.(337-339)Ctt>Att	p.L113I	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAAGCACTACTTTTGGCATC	0.443												
SMC3	9126	broad.mit.edu	37	10	112328741	112328741	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:112328741G>C	uc001kze.3	+	1	187	c.61G>C	c.(61-63)Gat>Cat	p.D21H		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	21					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AACAATTGTAGATCCCTTCAG	0.308												
SMC3	9126	broad.mit.edu	37	10	112341821	112341821	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:112341821C>G	uc001kze.3	+	8	814	c.688C>G	c.(688-690)Cag>Gag	p.Q230E		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	230					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CATTTACAATCAGGAACTTAA	0.343												
NHLRC2	374354	broad.mit.edu	37	10	115668096	115668096	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:115668096G>A	uc001lax.2	+	10	2223	c.1982G>A	c.(1981-1983)aGt>aAt	p.S661N	NHLRC2_uc001lay.2_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	661					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AACATTTCCAGTCAACCAACA	0.348												
DAGLA	747	broad.mit.edu	37	11	61490356	61490356	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:61490356C>T	uc001nsa.3	+	3	449	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	111					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AGTTCATCTACGCCATCGTGG	0.607												
CPT1A	1374	broad.mit.edu	37	11	68579934	68579934	+	Silent	SNP	A	A	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:68579934A>G	uc001oog.4	-	2	422	c.252T>C	c.(250-252)atT>atC	p.I84I	CPT1A_uc001oof.4_Silent_p.I84I	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	84					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TGATTTTTGCAATTATTCCTA	0.473												
P2RY2	5029	broad.mit.edu	37	11	72945705	72945705	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:72945705C>T	uc021qna.1	+	0	501	c.501C>T	c.(499-501)ccC>ccT	p.P167P	P2RY2_uc001otk.3_Silent_p.P167P|P2RY2_uc001otj.3_Silent_p.P167P|P2RY2_uc001otl.3_Silent_p.P167P	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	167					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCAGGCCCCCGTGCTCTACT	0.721												
ST14	6768	broad.mit.edu	37	11	130069961	130069961	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:130069961C>T	uc001qfw.3	+	15	2116	c.1923C>T	c.(1921-1923)tgC>tgT	p.C641C		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	641	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCCACATCTGCGGTGCTTCCC	0.627												
SLC38A2	54407	broad.mit.edu	37	12	46757576	46757576	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:46757576C>T	uc001rpg.3	-	11	1427	c.987G>A	c.(985-987)aaG>aaA	p.K329K	SLC38A2_uc010sli.2_Silent_p.K167K|SLC38A2_uc001rph.3_Silent_p.K229K	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA.	329					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAAATGAAATCTTGGACACAT	0.353												
BAZ2A	11176	broad.mit.edu	37	12	57005685	57005685	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:57005685G>A	uc001slq.1	-	5	1681	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F	BAZ2A_uc001slp.1_Missense_Mutation_p.S494F|BAZ2A_uc009zow.1_Missense_Mutation_p.S464F	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	496					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGTTACGGGAGAGGCTTTTGG	0.542												
ALDH1L2	160428	broad.mit.edu	37	12	105455479	105455479	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:105455479G>T	uc001tlc.3	-	7	1100	c.973C>A	c.(973-975)Cag>Aag	p.Q325K	ALDH1L2_uc009zuo.3_5'UTR|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	325					10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GAAAAGTACTGAGAGGCAGGG	0.408												
TRPV4	59341	broad.mit.edu	37	12	110230485	110230485	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:110230485G>A	uc001tpj.2	-	9	1891	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	TRPV4_uc001tpg.2_Missense_Mutation_p.T565M|TRPV4_uc021rdp.1_Missense_Mutation_p.T539M|TRPV4_uc001tph.2_Missense_Mutation_p.T552M|TRPV4_uc001tpi.2_Missense_Mutation_p.T492M|TRPV4_uc001tpk.2_Missense_Mutation_p.T599M	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	599					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.T599T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ATAGGTCCCCGTCAGCTTCAG	0.582												
DNAH10	196385	broad.mit.edu	37	12	124330629	124330629	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:124330629C>T	uc001uft.4	+	30	5413	c.5388C>T	c.(5386-5388)taC>taT	p.Y1796Y		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1796	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTACGGCTACGAGTACATGG	0.587												
NYNRIN	57523	broad.mit.edu	37	14	24878300	24878300	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr14:24878300C>A	uc001wpf.4	+	3	1618	c.1300C>A	c.(1300-1302)Cca>Aca	p.P434T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	434					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCTGGTAGACCAGATGGGGG	0.552												
PLEK2	26499	broad.mit.edu	37	14	67864439	67864439	+	Silent	SNP	G	G	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr14:67864439G>T	uc001xjh.1	-	1	199	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	Homo sapiens pleckstrin 2 (PLEK2), mRNA.	49	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GGAGGATCCGGCCCTTGGGAG	0.592												
PEAK1	79834	broad.mit.edu	37	15	77473255	77473255	+	Silent	SNP	T	T	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:77473255T>C	uc021sqy.1	-	4	1590	c.1014A>G	c.(1012-1014)tcA>tcG	p.S338S	PEAK1_uc002bcn.2_Silent_p.S338S|PEAK1_uc021sqz.1_5'Flank	NM_024776	NP_079052	Q9H792	PEAK1_HUMAN	Homo sapiens NKF3 kinase family member (PEAK1), mRNA.	338	Ser-rich.				cell migration|protein autophosphorylation|substrate adhesion-dependent cell spreading	actin cytoskeleton|cytoplasm|focal adhesion	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding										TGGAGTCAGATGACACCATGC	0.423												
CHRNB4	1143	broad.mit.edu	37	15	78921872	78921872	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:78921872C>T	uc002bed.1	-	4	887	c.775G>A	c.(775-777)Gac>Aac	p.D259N	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.D77N	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	259					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCGCCGCAGTCGGATGGCAGG	0.557												
RASGRF1	5923	broad.mit.edu	37	15	79292172	79292172	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:79292172C>T	uc002beq.3	-	17	3082	c.2707G>A	c.(2707-2709)Gcc>Acc	p.A903T	RASGRF1_uc002bep.3_Missense_Mutation_p.A887T|RASGRF1_uc010blm.1_Missense_Mutation_p.A812T|RASGRF1_uc002ber.4_Missense_Mutation_p.A887T|RASGRF1_uc010unh.1_Missense_Mutation_p.A298T|RASGRF1_uc002beo.3_Missense_Mutation_p.A119T	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	905					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.A903T(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGGCAGAGGCGGCCGACAAG	0.562												
NTRK3	4916	broad.mit.edu	37	15	88576210	88576210	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:88576210A>G	uc002bme.2	-	13	1769	c.1463T>C	c.(1462-1464)aTc>aCc	p.I488T	NTRK3_uc002bmh.2_Missense_Mutation_p.I480T|NTRK3_uc002bmf.2_Missense_Mutation_p.I488T|NTRK3_uc021sua.1_Missense_Mutation_p.I480T|NTRK3_uc010upl.1_Missense_Mutation_p.I390T|NTRK3_uc010bnh.1_Missense_Mutation_p.I480T|NTRK3_uc002bmg.3_Missense_Mutation_p.I488T|NTRK3_uc010bni.2_Non-coding_Transcript	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	488					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.I488T(2)|p.I488I(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGCGTGGTGATGCCGTGGTT	0.607			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)		
SEPT12	124404	broad.mit.edu	37	16	4834042	4834042	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr16:4834042G>A	uc002cxq.3	-	4	666	c.402C>T	c.(400-402)aaC>aaT	p.N134N	SEPT12_uc002cxr.3_Intron|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	134					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CGTATTGCTCGTTGATGTAGC	0.627												
IQCK	124152	broad.mit.edu	37	16	19729642	19729642	+	Missense_Mutation	SNP	G	G	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr16:19729642G>C	uc002dgr.3	+	1	713	c.14G>C	c.(13-15)cGg>cCg	p.R5P	IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.R5P|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_5'UTR|C16orf88_uc002dgq.3_5'Flank	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	Homo sapiens IQ motif containing K (IQCK), mRNA.	5										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GCGGCACCGCGGCAAATCCCC	0.692												
ODF4	146852	broad.mit.edu	37	17	8243550	8243550	+	Missense_Mutation	SNP	C	C	T	rs147153349		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr17:8243550C>T	uc002gle.1	+	0	363	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	61					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R61S(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTGGGCCAGCGCCAGAACTC	0.592												
RHBDL3	162494	broad.mit.edu	37	17	30632431	30632431	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr17:30632431G>A	uc010csx.1	+						RHBDL3_uc002hhe.1_Missense_Mutation_p.V285I|RHBDL3_uc010csw.1_Missense_Mutation_p.V277I|RHBDL3_uc010csy.1_Missense_Mutation_p.V187I|RHBDL3_uc002hhf.1_Missense_Mutation_p.V187I			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.						proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GTATGCTCTCGTCTCTGCCCA	0.542												
POLRMT	5442	broad.mit.edu	37	19	622950	622950	+	Missense_Mutation	SNP	C	C	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:622950C>A	uc002lpf.1	-	6	1382	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	442					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGTGCTTTCTCCCATTGGT	0.672												
PODNL1	79883	broad.mit.edu	37	19	14046600	14046600	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:14046600G>A	uc002mxr.3	-	4	723	c.449C>T	c.(448-450)gCg>gTg	p.A150V	PODNL1_uc010xni.2_Missense_Mutation_p.A68V|PODNL1_uc010xnj.2_Missense_Mutation_p.A148V|PODNL1_uc002mxs.3_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	150	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			AGCCAGATCCGCGACACGGAG	0.667												
EMR2	30817	broad.mit.edu	37	19	14857101	14857101	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:14857101A>C	uc002mzp.1	-	17	2582	c.2126T>G	c.(2125-2127)aTt>aGt	p.I709S	EMR2_uc010dzs.1_Missense_Mutation_p.I168S|EMR2_uc010xnw.1_Missense_Mutation_p.I651S|EMR2_uc002mzo.1_Missense_Mutation_p.I698S|EMR2_uc002mzq.1_Missense_Mutation_p.I649S|EMR2_uc002mzr.1_Missense_Mutation_p.I660S|EMR2_uc002mzs.1_Missense_Mutation_p.I567S|EMR2_uc002mzt.1_Missense_Mutation_p.I605S|EMR2_uc002mzu.1_Missense_Mutation_p.I616S|EMR2_uc010xnx.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	709					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTTTTTCAAAATCCAGAGAGT	0.388												
CPAMD8	27151	broad.mit.edu	37	19	17086872	17086872	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:17086872G>A	uc002nfb.3	-	15	2021	c.1989C>T	c.(1987-1989)gtC>gtT	p.V663V		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	616						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAACTGCGGCGACGCACACAC	0.597												
FFAR2	2867	broad.mit.edu	37	19	35940788	35940790	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:35940788_35940790delCTG	uc002nzg.2	+	1	252_254	c.172_174delCTG	c.(172-174)ctgdel	p.L62del	FFAR2_uc010eea.3_In_Frame_Del_p.L62del	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	62						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CGACCTCCTCCTGCTGCTGCTGC	0.645												
ZFP30	22835	broad.mit.edu	37	19	38126468	38126468	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:38126468G>A	uc002ogv.1	-	5	1490	c.974C>T	c.(973-975)cCc>cTc	p.P325L	ZFP30_uc002ogw.1_Missense_Mutation_p.P325L|ZFP30_uc002ogx.1_Missense_Mutation_p.P325L|ZFP30_uc010xtt.1_Missense_Mutation_p.P324L	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTCATAGGGTTTTTCTCC	0.438												
MAP4K1	11184	broad.mit.edu	37	19	39086283	39086283	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:39086283C>T	uc002oix.1	-	27	2374	c.2266G>A	c.(2266-2268)Gtg>Atg	p.V756M	MAP4K1_uc002oiy.1_Missense_Mutation_p.V756M	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	756	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACAGACCCACGGCCTCCACC	0.622												
LILRA1	11024	broad.mit.edu	37	19	55107682	55107682	+	Silent	SNP	G	G	A	rs138767008		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:55107682G>A	uc002qgh.1	+	6	1169	c.987G>A	c.(985-987)tcG>tcA	p.S329S	LILRA1_uc010yfg.1_Silent_p.S327S|LILRA1_uc010yfh.2_Silent_p.S329S	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	329	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTTCATCTCGGTGCATCCGG	0.612												
NLRP8	126205	broad.mit.edu	37	19	56466478	56466478	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:56466478G>A	uc002qmh.3	+	2	1125	c.1054G>A	c.(1054-1056)Gta>Ata	p.V352I	NLRP8_uc010etg.3_Missense_Mutation_p.V352I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	352	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCCTCTCTCGTAACCCTTCC	0.458												
EHD3	30845	broad.mit.edu	37	2	31483602	31483602	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:31483602C>T	uc002rnu.3	+	3	1337	c.729C>T	c.(727-729)atC>atT	p.I243I	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	243					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGGGGAAGATCGTGAACACCC	0.592												
SLC35F5	80255	broad.mit.edu	37	2	114489225	114489225	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:114489225G>T	uc002tku.1	-	10	1335	c.921_splice	c.e10-1	p.S307_splice	SLC35F5_uc002tkt.3_Splice_Site	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	307	DUF6.				transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CGCCTCCAATGCTATGAGAAT	0.373												
GCA	25801	broad.mit.edu	37	2	163204201	163204201	+	Silent	SNP	T	T	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:163204201T>C	uc002ucg.3	+	1	317	c.141T>C	c.(139-141)taT>taC	p.Y47Y		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	47					cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CAGACACTTATTCCTCAGCTG	0.443												
ITGA4	3676	broad.mit.edu	37	2	182374515	182374515	+	Missense_Mutation	SNP	A	A	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:182374515A>C	uc002unu.3	+	15	2589	c.1826A>C	c.(1825-1827)aAa>aCa	p.K609T	ITGA4_uc010frj.1_Missense_Mutation_p.K91T	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	609					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGAAAGAAAAAGACATAATG	0.333												
COL4A4	1286	broad.mit.edu	37	2	227924195	227924195	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:227924195G>A	uc021vxr.1	-	26	2410	c.2309C>T	c.(2308-2310)cCg>cTg	p.P770L	COL4A4_uc021vxs.1_Missense_Mutation_p.P770L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	770	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTCTTTCCCGGGGGTCCCAG	0.612												
CASS4	57091	broad.mit.edu	37	20	55027872	55027872	+	Missense_Mutation	SNP	T	T	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr20:55027872T>C	uc002xxp.2	+	5	1865	c.1640T>C	c.(1639-1641)cTt>cCt	p.L547P	CASS4_uc002xxq.4_Missense_Mutation_p.L547P|CASS4_uc010zze.1_Missense_Mutation_p.L493P|CASS4_uc002xxr.2_Missense_Mutation_p.L547P|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	547					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGGAAGTTCTTGTGACTGAC	0.493												
TMPRSS15	5651	broad.mit.edu	37	21	19744570	19744570	+	Missense_Mutation	SNP	A	A	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr21:19744570A>T	uc002ykw.3	-	5	635	c.604T>A	c.(604-606)Tta>Ata	p.L202I		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	202	LDL-receptor class A 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCACAAAATAAATCAGCTTTT	0.383												
ICOSLG	23308	broad.mit.edu	37	21	45655287	45655287	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr21:45655287C>T	uc010gpp.1	-	3	699	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	ICOSLG_uc002zef.3_Missense_Mutation_p.V72I|ICOSLG_uc002zee.3_Missense_Mutation_p.V189I|ICOSLG_uc011afc.2_Missense_Mutation_p.V99I	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	189	Ig-like C2-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TTCAAGAAGACGGTGTCATTC	0.552												
LTF	4057	broad.mit.edu	37	3	46490484	46490484	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:46490484C>T	uc003cpq.3	-	8	1323	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	LTF_uc003fzr.3_Missense_Mutation_p.R317H|LTF_uc010hjh.3_Missense_Mutation_p.R361H|LTF_uc003cpr.3_Missense_Mutation_p.R348H	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	361					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GACCCGCGCACGCCGGGCAGC	0.667												
DHX30	22907	broad.mit.edu	37	3	47890010	47890010	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:47890010G>A	uc003cru.3	+	15	2971	c.2545G>A	c.(2545-2547)Gac>Aac	p.D849N	DHX30_uc003crt.3_Missense_Mutation_p.D810N|MIR1226_uc021wxj.1_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	849						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAAGGCAGTGGACGAGGCTGT	0.622												
IFRD2	7866	broad.mit.edu	37	3	50327467	50327467	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:50327467C>G	uc003czb.3	-	7	937	c.937G>C	c.(937-939)Gtg>Ctg	p.V313L	IFRD2_uc011bdp.2_Missense_Mutation_p.V211L	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	211							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCCAGCTGCACGCAGAGCAGG	0.637												
GPR15	2838	broad.mit.edu	37	3	98251667	98251667	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:98251667G>A	uc011bgy.2	+	0	790	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	264						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAAGTTCCTGGCCATTGTCTC	0.453												
TRPC1	7220	broad.mit.edu	37	3	142524983	142524983	+	Missense_Mutation	SNP	A	A	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:142524983A>G	uc003evc.3	+	12	2424	c.2288A>G	c.(2287-2289)gAa>gGa	p.E763G	TRPC1_uc003evb.3_Missense_Mutation_p.E729G	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	763					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AATCTAAACGAACTGCGCCAA	0.373												
CPZ	8532	broad.mit.edu	37	4	8605806	8605806	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:8605806G>A	uc003glm.3	+	3	774	c.600G>A	c.(598-600)acG>acA	p.T200T	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.T189T|CPZ_uc003gln.3_Silent_p.T63T	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	200				T -> M (in Ref. 4; BC006393).	proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAGGCGGACGGCCTCCCGCT	0.701												
FRAS1	80144	broad.mit.edu	37	4	79366682	79366682	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:79366682G>A	uc003hlb.2	+	41	6112	c.5672G>A	c.(5671-5673)cGt>cAt	p.R1891H	FRAS1_uc003hkw.3_Missense_Mutation_p.R1891H|FRAS1_uc010ijj.2_Missense_Mutation_p.R311H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1890					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCAGGTGATCGTTTTGGCCCT	0.393												
ALPK1	80216	broad.mit.edu	37	4	113351620	113351620	+	Missense_Mutation	SNP	G	G	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:113351620G>T	uc003ian.4	+	10	1144	c.917G>T	c.(916-918)tGt>tTt	p.C306F	ALPK1_uc003iap.4_Missense_Mutation_p.C306F|ALPK1_uc011cfx.2_Missense_Mutation_p.C228F|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.C134F	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	306							ATP binding|protein serine/threonine kinase activity	p.T305T(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGTGGCACGTGTTTATTGTCC	0.398												
PRSS48	345062	broad.mit.edu	37	4	152203364	152203364	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:152203364C>T	uc011cif.2	+	2	280	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PRSS48_uc011cig.2_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	94	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CTCAAGGAAACGTGTGAAGTA	0.473												
CDH18	1016	broad.mit.edu	37	5	19520782	19520782	+	Missense_Mutation	SNP	T	T	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:19520782T>A	uc003jgd.3	-	9	2030	c.1496A>T	c.(1495-1497)aAt>aTt	p.N499I	CDH18_uc011cnm.2_Missense_Mutation_p.N499I|CDH18_uc003jgc.3_Missense_Mutation_p.N499I|CDH18_uc021xwu.1_Missense_Mutation_p.N499I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	499	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGGCTTAGAATTTTCACATAC	0.393												
PLCXD3	345557	broad.mit.edu	37	5	41382221	41382221	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:41382221C>T	uc003jmm.1	-	1	621	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	173	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGGCAAAAATCGCTGGGCACA	0.428												
FGF18	8817	broad.mit.edu	37	5	170883763	170883763	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:170883763C>T	uc003mbk.3	+	4	1115	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	193					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGTACACGACGGTGACCAAG	0.657												
BCLAF1	9774	broad.mit.edu	37	6	136600997	136600997	+	Missense_Mutation	SNP	C	C	T	rs148729378	byFrequency	TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:136600997C>T	uc003qgx.1	-	2	261	c.8G>A	c.(7-9)cGc>cAc	p.R3H	BCLAF1_uc003qgy.1_Missense_Mutation_p.R3H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R3H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R3H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	3					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R3H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAATTGGAGCGACCCATTTC	0.308												
ESR1	2099	broad.mit.edu	37	6	152265483	152265483	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:152265483C>T	uc010kio.3	+	4	1160	c.942C>T	c.(940-942)gcC>gcT	p.A314A	ESR1_uc003qom.4_Silent_p.A312A|ESR1_uc010kin.3_Silent_p.A312A|ESR1_uc010kip.3_Silent_p.A311A|ESR1_uc003qon.4_Silent_p.A312A|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Silent_p.A312A|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Intron|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Silent_p.A93A|ESR1_uc010kit.1_Silent_p.A49A|ESR1_uc011eey.2_Silent_p.A49A	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	312	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.A312A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CCCTGACGGCCGACCAGATGG	0.547												
SYNE1	23345	broad.mit.edu	37	6	152461284	152461284	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:152461284C>T	uc021zhb.1	-	137	25482	c.25259G>A	c.(25258-25260)cGa>cAa	p.R8420Q	SYNE1_uc003qos.4_Missense_Mutation_p.R2944Q|SYNE1_uc003qot.4_Missense_Mutation_p.R8372Q|SYNE1_uc003qou.4_Missense_Mutation_p.R8420Q|SYNE1_uc011eez.2_Missense_Mutation_p.R622Q|SYNE1_uc003qoq.4_Missense_Mutation_p.R622Q|SYNE1_uc003qor.4_Missense_Mutation_p.R1343Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8420					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AAGCTCCCATCGGTCAATCAC	0.458										HNSCC(10;0.0054)		
ADAM22	53616	broad.mit.edu	37	7	87795154	87795154	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:87795154G>A	uc003ujn.3	+	23	2299	c.2084G>A	c.(2083-2085)aGt>aAt	p.S695N	ADAM22_uc003ujk.2_Missense_Mutation_p.S695N|ADAM22_uc003ujl.2_Missense_Mutation_p.S695N|ADAM22_uc003ujm.3_Missense_Mutation_p.S695N|ADAM22_uc003ujo.3_Missense_Mutation_p.S695N|ADAM22_uc003ujp.1_Missense_Mutation_p.S747N	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	695	EGF-like.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTTTGCAGTAATGAGCTG	0.368												
ZNF3	7551	broad.mit.edu	37	7	99672770	99672770	+	Missense_Mutation	SNP	C	C	G			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:99672770C>G	uc003uss.3	-	1	598	c.280G>C	c.(280-282)Gtg>Ctg	p.V94L	ZNF3_uc003usp.3_Missense_Mutation_p.V87L|ZNF3_uc003usq.3_Missense_Mutation_p.V87L|ZNF3_uc010lgj.3_Missense_Mutation_p.V51L|ZNF3_uc003usr.3_Missense_Mutation_p.V87L|ZNF3_uc003ust.4_Missense_Mutation_p.V87L			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	87	KRAB.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGTGAGAACACATTCCCGTAA	0.458												
MUC17	140453	broad.mit.edu	37	7	100674888	100674888	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:100674888C>T	uc003uxp.1	+	2	244	c.191C>T	c.(190-192)gCg>gTg	p.A64V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	64						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACAGGTTCTGCGGCAAACACC	0.418												
CCDC136	64753	broad.mit.edu	37	7	128434467	128434469	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:128434467_128434469delGAA	uc003vnv.2	+	1	498_500	c.82_84delGAA	c.(82-84)gaadel	p.E32del	CCDC136_uc003vnu.2_In_Frame_Del_p.E82del	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	32	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						agaagaggtggaagaagaagaag	0.552												
TAS2R41	259287	broad.mit.edu	37	7	143174982	143174982	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:143174982C>T	uc003wdc.1	+	0	17	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	6					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GCAGCACTGACGGCCTTCTTC	0.572												
TAS2R41	259287	broad.mit.edu	37	7	143175836	143175836	+	Nonsense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:143175836C>T	uc003wdc.1	+	0	871	c.871C>T	c.(871-873)Cga>Tga	p.R291*	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	291					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCTCAAGCTTCGAAGCGTGTT	0.502												
KCNB2	9312	broad.mit.edu	37	8	73849053	73849053	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:73849053C>T	uc003xzb.3	+	2	2051	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	488					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AATCACCTGTCGCCAAGCCGG	0.527												
KIAA1429	25962	broad.mit.edu	37	8	95547143	95547143	+	Silent	SNP	T	T	C			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:95547143T>C	uc003ygo.2	-	4	479	c.408A>G	c.(406-408)agA>agG	p.R136R	KIAA1429_uc003ygp.3_Silent_p.R136R	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	136					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			gtggAGAGTCTCTGTCATGAC	0.448												
PKHD1L1	93035	broad.mit.edu	37	8	110476724	110476724	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:110476724G>A	uc003yne.3	+	48	7767	c.7663G>A	c.(7663-7665)Gat>Aat	p.D2555N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2555					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2557N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTCTGAATGATGATGTGAC	0.443										HNSCC(38;0.096)		
SLC45A4	57210	broad.mit.edu	37	8	142229845	142229845	+	Missense_Mutation	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:142229845C>T	uc003ywd.1	-	2	669	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	SLC45A4_uc003ywc.1_Missense_Mutation_p.A121T|SLC45A4_uc010meq.1_Missense_Mutation_p.A119T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	172					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GTGGCATCGGCGCTGAAGTCC	0.657												
CYLC2	1539	broad.mit.edu	37	9	105767804	105767804	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr9:105767804G>A	uc004bbs.2	+	4	961	c.891G>A	c.(889-891)acG>acA	p.T297T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	297	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.T297T(4)|p.A296A(1)|p.T297M(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aggacgccacgaaagatgcca	0.388												
MAGEB6	158809	broad.mit.edu	37	X	26212572	26212572	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:26212572G>A	uc022buc.1	+	0	609	c.609G>A	c.(607-609)gcG>gcA	p.A203A	MAGEB6_uc004dbr.3_Silent_p.A203A	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	203	MAGE.							p.A203A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCACGTTGGCGCAATTCCTGC	0.478												
FAM70A	55026	broad.mit.edu	37	X	119410833	119410833	+	Silent	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:119410833G>A	uc004eso.4	-	7	881	c.654C>T	c.(652-654)ctC>ctT	p.L218L	FAM70A_uc004esp.4_Silent_p.L194L|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	218						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						GCAGGTGGTAGAGGTGGATGA	0.542												
SAGE1	55511	broad.mit.edu	37	X	134986679	134986679	+	Silent	SNP	C	C	T			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:134986679C>T	uc004ezh.3	+	3	431	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SAGE1_uc010nry.1_Intron|SAGE1_uc011mvv.2_Silent_p.N88N	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	88										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGATAAATAACGGCCAACCAG	0.443												
GPR112	139378	broad.mit.edu	37	X	135430793	135430793	+	Missense_Mutation	SNP	C	C	T	rs146283448		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:135430793C>T	uc004ezu.1	+	5	5219	c.4928C>T	c.(4927-4929)aCg>aTg	p.T1643M	GPR112_uc010nsb.1_Missense_Mutation_p.T1438M|GPR112_uc010nsc.1_Missense_Mutation_p.T1410M	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1643					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1642H(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCACACCTACGACCTTTCTC	0.468												
DNASE1L1	1774	broad.mit.edu	37	X	153633852	153633852	+	Missense_Mutation	SNP	G	G	A			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:153633852G>A	uc004fks.1	-	1	249	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	DNASE1L1_uc004fkt.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fku.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkv.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkw.1_Missense_Mutation_p.R20C	NM_006730	NP_006721	P49184	DNSL1_HUMAN	Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA.	20					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCAGATGCGAAAGGCCTGG	0.607												
