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
SMG1	23049	broad.mit.edu	37	16	18856889	18856889	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:18856889G>A	ENST00000446231.2	-	39	6493	c.6081C>T	c.(6079-6081)atC>atT	p.I2027I	SMG1_ENST00000389467.3_Silent_p.I2027I			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2027					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						GAGCCGCTGTGATACTCCTCA	0.433000													85	54					0	0	1	0	0
GNMT	27232	broad.mit.edu	37	6	42930028	42930028	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:42930028A>G	ENST00000372808.3	+	2	295	c.285A>G	c.(283-285)gcA>gcG	p.A95A		NM_018960.4	NP_061833.1	Q14749	GNMT_HUMAN	glycine N-methyltransferase	95					protein homotetramerization|protein modification process|S-adenosylmethionine metabolic process		folic acid binding|glycine binding|glycine N-methyltransferase activity			kidney(2)|large_intestine(1)|lung(1)	4	Colorectal(47;0.196)		all cancers(41;0.00196)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0461)		Glycine(DB00145)|S-Adenosylmethionine(DB00118)	TGAAGTATGCACTTAAGGAGC	0.592000													29	50					0	0	1	0	0
CENPE	1062	broad.mit.edu	37	4	104044225	104044225	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:104044225C>G	ENST00000265148.3	-	43	7035	c.6946G>C	c.(6946-6948)Gag>Cag	p.E2316Q	CENPE_ENST00000380026.3_Missense_Mutation_p.E2195Q	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2316	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCCTCAAACTCTGTTGATTCA	0.333000													38	36					0	0	1	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236326	33236326	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:33236326G>C	ENST00000401073.2	+	6	1616	c.1546G>C	c.(1546-1548)Gat>Cat	p.D516H	KIAA1522_ENST00000373481.3_Missense_Mutation_p.D468H|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373480.1_Missense_Mutation_p.D457H	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	457	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				AGCAGTGCCTGATGGGCCATT	0.682000													12	27					0	0	1	0	0
IGF2	3481	broad.mit.edu	37	11	2154863	2154863	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:2154863G>A	ENST00000416167.2	-	3	1356	c.190C>T	c.(190-192)Cgt>Tgt	p.R64C	IGF2_ENST00000418738.2_Missense_Mutation_p.R64C|IGF2_ENST00000381406.4_Missense_Mutation_p.R67C|IGF2_ENST00000381395.1_Missense_Mutation_p.R64C|IGF2_ENST00000381392.1_Missense_Mutation_p.R67C|IGF2_ENST00000381389.1_Missense_Mutation_p.R64C|IGF2_ENST00000300632.5_Missense_Mutation_p.R64C|IGF2_ENST00000434045.2_Missense_Mutation_p.R120C			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	64	C.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ACGATGCCACGGCTGCGACGG	0.662000													11	35					0	0	1	0	0
RAD54L2	23132	broad.mit.edu	37	3	51673632	51673632	+	Silent	SNP	C	C	T	rs139263625	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:51673632C>T	ENST00000409535.2	+	12	2183	c.2058C>T	c.(2056-2058)ggC>ggT	p.G686G	RAD54L2_ENST00000296477.3_Silent_p.G380G	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCCTACAGGGCGTTGGCTTCA	0.517000													8	41					0	0	1	0	0
ZNF761	388561	broad.mit.edu	37	19	53958557	53958557	+	RNA	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:53958557G>A	ENST00000454407.1	+	0	1249							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ATGTCACACTGGTGAGAATCC	0.413000													146	234					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17611371	17611371	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:17611371C>G	ENST00000252595.7	+	9	1498	c.1401C>G	c.(1399-1401)gtC>gtG	p.V467V	SLC27A1_ENST00000442725.1_Silent_p.V467V|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Silent_p.V288V|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	467	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						ATGGCTATGTCAGCGAGAGCG	0.642000													16	37					0	0	1	0	0
OTUD4	54726	broad.mit.edu	37	4	146058794	146058794	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:146058794G>A	ENST00000454497.2	-	21	3075	c.2938C>T	c.(2938-2940)Caa>Taa	p.Q980*	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Nonsense_Mutation_p.Q1045*	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1044							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATAAGTTTGATTATAGAAC	0.408000													73	131					0	0	1	0	0
POM121	9883	broad.mit.edu	37	7	72413896	72413896	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:72413896A>G	ENST00000395270.1	+	14	3610	c.2569A>G	c.(2569-2571)Acc>Gcc	p.T857A	POM121_ENST00000257622.4_Missense_Mutation_p.T857A|POM121_ENST00000358357.3_Missense_Mutation_p.T857A|POM121_ENST00000446813.1_Missense_Mutation_p.T857A|POM121_ENST00000434423.2_Missense_Mutation_p.T1122A	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1122	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		p.T857A(8)		NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGGCTCCAGCACCACCACCGG	0.637000													5	72					0	0	1	0	0
SNX18	112574	broad.mit.edu	37	5	53815261	53815261	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:53815261C>T	ENST00000343017.6	+	1	1673	c.1479C>T	c.(1477-1479)atC>atT	p.I493I	SNX18_ENST00000326277.3_Silent_p.I493I|SNX18_ENST00000381410.4_Silent_p.I493I	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	493	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				ACCAGGCTATCGCCTTCACCG	0.607000													34	56					0	0	1	0	0
PPFIA3	8541	broad.mit.edu	37	19	49643309	49643309	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:49643309C>T	ENST00000334186.4	+	18	2681	c.2332C>T	c.(2332-2334)Cga>Tga	p.R778*	PPFIA3_ENST00000602351.1_Nonsense_Mutation_p.R778*	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	778						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		AGAGAAGGGACGAATGGGACC	0.547000													47	78					0	0	1	0	0
PDZRN4	29951	broad.mit.edu	37	12	41966494	41966494	+	Missense_Mutation	SNP	G	G	A	rs138042494	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:41966494G>A	ENST00000298919.7	+	10	1521	c.1133G>A	c.(1132-1134)cGa>cAa	p.R378Q	PDZRN4_ENST00000402685.2_Missense_Mutation_p.R638Q|PDZRN4_ENST00000539469.2_Missense_Mutation_p.R380Q			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	638							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGCAAGATTCGAAATCATGGA	0.453000													64	32					0	0	1	0	0
ITGA8	8516	broad.mit.edu	37	10	15701026	15701026	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:15701026G>A	ENST00000378076.3	-	10	1273	c.920C>T	c.(919-921)aCg>aTg	p.T307M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	307					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTGAATAAACGTCATATCCGT	0.318000													12	31					0	0	1	0	0
MAGOH	4116	broad.mit.edu	37	1	53699227	53699227	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:53699227C>T	ENST00000371470.3	-	3	406	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	MAGOH_ENST00000462941.1_5'UTR|MAGOH_ENST00000371466.4_Intron	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	82					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						CCGGCCCACTCGGTCAGGAGG	0.453000													88	85					0	0	1	0	0
ANKS6	203286	broad.mit.edu	37	9	101536318	101536318	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:101536318C>T	ENST00000353234.4	-	9	1709	c.1662G>A	c.(1660-1662)ctG>ctA	p.L554L	ANKS6_ENST00000540940.1_Silent_p.L359L|ANKS6_ENST00000375019.2_Silent_p.L253L|ANKS6_ENST00000375018.1_Silent_p.L554L			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	554										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGACTGCTTTCAGCTTGTCAC	0.582000													15	45					0	0	1	0	0
STON1-GTF2A1L	286749	broad.mit.edu	37	2	48874166	48874166	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:48874166A>G	ENST00000394754.1	+	8	3189	c.3075A>G	c.(3073-3075)atA>atG	p.I1025M	GTF2A1L_ENST00000430487.2_Missense_Mutation_p.I287M|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.I1025M|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.I1025M|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.I978M|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.I1025M|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.I321M|LHCGR_ENST00000420913.3_Splice_Site	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		978					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAGCAACATACCTGTATCAG	0.393000													23	53					0	0	1	0	0
COPS3	8533	broad.mit.edu	37	17	17184477	17184477	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:17184477G>T	ENST00000268717.5	-	1	130	c.24C>A	c.(22-24)ttC>ttA	p.F8L		NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	8					cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CACTGTTCACGAACTGCTCCA	0.706000													3	13					0.150653	0.150653	1	1	0
XPR1	9213	broad.mit.edu	37	1	180804041	180804041	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:180804041T>G	ENST00000367590.4	+	10	1364	c.1166T>G	c.(1165-1167)gTa>gGa	p.V389G	XPR1_ENST00000367589.3_Missense_Mutation_p.V389G	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	389						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TTCCATAAGGTAGGCTTTGCT	0.403000													17	98					0	0	1	0	0
ZNF217	7764	broad.mit.edu	37	20	52199284	52199284	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:52199284G>C	ENST00000371471.2	-	2	507	c.82C>G	c.(82-84)Ctt>Gtt	p.L28V	ZNF217_ENST00000302342.3_Missense_Mutation_p.L28V			O75362	ZN217_HUMAN	zinc finger protein 217	28					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			GGACTGCCAAGAGAGCTGCCA	0.458000													41	55					0	0	1	0	0
SOGA3	387104	broad.mit.edu	37	6	127796661	127796661	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:127796661C>G	ENST00000556132.1	-	6	3374	c.2510G>C	c.(2509-2511)aGc>aCc	p.S837T	SOGA3_ENST00000474293.2_5'UTR|SOGA3_ENST00000525778.1_Missense_Mutation_p.S837T|SOGA3_ENST00000368268.2_Missense_Mutation_p.S837T|SOGA3_ENST00000465909.2_Missense_Mutation_p.S837T|SOGA3_ENST00000481848.2_Missense_Mutation_p.S837T	NM_001012279.2	NP_001012279.1	Q5TF21	CF174_HUMAN	SOGA family member 3	837						integral to membrane											GATGATGGTGCTCGTGTCGGC	0.662000													55	148					0	0	1	0	0
ADRB2	154	broad.mit.edu	37	5	148207103	148207103	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:148207103G>C	ENST00000305988.4	+	1	948	c.709G>C	c.(709-711)Gag>Cag	p.E237Q		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	237					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TGACAAATCTGAGGGCCGCTT	0.547000													6	100					0	0	1	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110457235	110457235	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:110457235G>A	ENST00000378402.5	+	38	5241	c.5137G>A	c.(5137-5139)Gaa>Aaa	p.E1713K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1713	IPT/TIG 9.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			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)			CATTGAATGTGAAACATCCCC	0.443000										HNSCC(38;0.096)			9	283					0	0	1	0	0
JMJD1C	221037	broad.mit.edu	37	10	64960429	64960429	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:64960429G>A	ENST00000399262.2	-	11	5301	c.5083C>T	c.(5083-5085)Cct>Tct	p.P1695S	JMJD1C_ENST00000399251.1_Intron|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P1513S|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P1476S	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1695					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ACTGAACGAGGAATGCCAGCT	0.373000													8	29					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26958885	26958885	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:26958885C>T	ENST00000528896.2	-	22	4123	c.4049G>A	c.(4048-4050)aGt>aAt	p.S1350N	KIAA0100_ENST00000544884.1_Missense_Mutation_p.S1207N|KIAA0100_ENST00000389003.3_Missense_Mutation_p.S1207N	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1350						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ATGGCCCTGACTGCACTCAAT	0.473000													6	243					0	0	1	0	0
ELF3	1999	broad.mit.edu	37	1	201984345	201984345	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:201984345A>G	ENST00000359651.3	+	8	4202	c.1010A>G	c.(1009-1011)tAc>tGc	p.Y337C	ELF3_ENST00000367284.5_Missense_Mutation_p.Y337C|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.Y337C			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	337					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						AGGTACTACTACAAACGGGAG	0.597000													100	2					0	0	1	0	0
ZNF560	147741	broad.mit.edu	37	19	9578205	9578205	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:9578205G>A	ENST00000301480.4	-	10	1631	c.1418C>T	c.(1417-1419)tCa>tTa	p.S473L		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AATAACACCTGAGGATGTACC	0.393000													45	181					0	0	1	0	0
AXDND1	126859	broad.mit.edu	37	1	179352577	179352577	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:179352577G>C	ENST00000367618.3	+	8	1026	c.639G>C	c.(637-639)atG>atC	p.M213I	AXDND1_ENST00000461179.2_3'UTR|AXDND1_ENST00000457238.2_Splice_Site_p.M213I	NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	213										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						AATTTTTTAGGAAACCTAATA	0.368000													3	56					0	0	1	0	0
CIT	11113	broad.mit.edu	37	12	120214582	120214582	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:120214582G>A	ENST00000392521.2	-	14	1785	c.1730C>T	c.(1729-1731)tCa>tTa	p.S577L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.S577L	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	577					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTTCTTGCTGAGACAAGATC	0.448000													118	54					0	0	1	0	0
RIMBP2	23504	broad.mit.edu	37	12	130923033	130923033	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:130923033G>A	ENST00000261655.4	-	9	1645	c.1482C>T	c.(1480-1482)acC>acT	p.T494T	RIMBP2_ENST00000535703.1_Silent_p.T402T|RIMBP2_ENST00000536002.1_Silent_p.T402T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	494	Fibronectin type-III 3.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CAGCCTGGACGGTAACATCTT	0.672000													15	9					0	0	1	0	0
NXPH1	30010	broad.mit.edu	37	7	8791209	8791209	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:8791209T>C	ENST00000405863.1	+	3	1537	c.626T>C	c.(625-627)cTc>cCc	p.L209P	NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_Missense_Mutation_p.L92P	NM_152745.2	NP_689958.1	P58417	NXPH1_HUMAN	neurexophilin 1	209	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AAGAACACACTCTGCAACTAT	0.413000													10	72					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28906611	28906611	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:28906611A>G	ENST00000375664.4	+	13	2246	c.1637A>G	c.(1636-1638)cAt>cGt	p.H546R	WAC_ENST00000354911.4_Missense_Mutation_p.H591R|WAC_ENST00000347934.4_Missense_Mutation_p.H488R|WAC_ENST00000375646.1_Missense_Mutation_p.H439R			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GAAGAAGCGCATAACATGGGA	0.299000													17	29					0	0	1	0	0
SEMA3E	9723	broad.mit.edu	37	7	83035312	83035312	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:83035312C>T	ENST00000307792.3	-	8	1344	c.877G>A	c.(877-879)Gtt>Att	p.V293I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.V233I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	293	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ACTGAGCAAACGAGTCTCGCT	0.348000													63	78					0	0	1	0	0
C5orf42	65250	broad.mit.edu	37	5	37183592	37183592	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:37183592C>G	ENST00000274258.7	-	26	4921	c.1334G>C	c.(1333-1335)aGa>aCa	p.R445T	C5orf42_ENST00000425232.2_Missense_Mutation_p.R1564T|C5orf42_ENST00000508244.1_Missense_Mutation_p.R1564T			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1564										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AGGTAGGTCTCTTTCAAGAAT	0.323000													20	54					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158406900	158406900	+	Silent	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:158406900T>C	ENST00000243349.8	-	4	909	c.549A>G	c.(547-549)ctA>ctG	p.L183L	ACVR1C_ENST00000409680.3_Silent_p.L133L|ACVR1C_ENST00000335450.7_Silent_p.L103L|ACVR1C_ENST00000348328.5_Intron	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC		GS.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						CCAACAGAGGTAGACCTAACC	0.368000													61	32					0	0	1	0	0
SPA17	53340	broad.mit.edu	37	11	124561605	124561605	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:124561605C>A	ENST00000532692.1	+	3	1660	c.239C>A	c.(238-240)cCt>cAt	p.P80H	SIAE_ENST00000525730.1_Intron|SPA17_ENST00000227135.2_Missense_Mutation_p.P80H|SPA17_ENST00000524614.1_3'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	80					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CAAGAACCACCTGAGAAAAGT	0.378000													49	32					9.52127e-25	1.06594e-24	1	1	0
STIL	6491	broad.mit.edu	37	1	47753284	47753284	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:47753284C>T	ENST00000360380.3	-	11	1435	c.1072G>A	c.(1072-1074)Gaa>Aaa	p.E358K	STIL_ENST00000243182.6_Missense_Mutation_p.E358K|STIL_ENST00000371877.3_Missense_Mutation_p.E358K|STIL_ENST00000337817.5_Missense_Mutation_p.E358K|STIL_ENST00000396221.2_Missense_Mutation_p.E358K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	358					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TTTTGGCTTTCAGCGCTCAGT	0.333000													25	26					0	0	1	0	0
ZNF662	389114	broad.mit.edu	37	3	42954704	42954704	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:42954704C>G	ENST00000541208.1	+	4	532	c.163C>G	c.(163-165)Cta>Gta	p.L55V	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000430067.2_3'UTR|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000440367.2_Missense_Mutation_p.L55V			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	55					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		ATATCCATTTCTAAAGCCTGC	0.498000													16	56					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271458	65271458	+	RNA	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:65271458G>C	ENST00000534336.1	+	0	6226					NR_002819.2																						ACAGTGATTAGAGTAATACTT	0.323000													7	15					0	0	1	0	0
MSR1	4481	broad.mit.edu	37	8	15978045	15978045	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:15978045G>T	ENST00000262101.5	-	9	1225	c.1104C>A	c.(1102-1104)agC>agA	p.S368R	MSR1_ENST00000355282.2_Intron|MSR1_ENST00000350896.3_Intron|MSR1_ENST00000445506.2_Missense_Mutation_p.S386R			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	368	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CCCACTGGCCGCTGTGGAGTA	0.517000													49	10					1.61004e-24	1.79725e-24	1	1	0
MFI2	4241	broad.mit.edu	37	3	196753550	196753550	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:196753550C>T	ENST00000296350.5	-	3	398	c.285G>A	c.(283-285)gtG>gtA	p.V95V	MFI2_ENST00000296351.4_Silent_p.V95V	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	95	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		ACACTTCGCCCACCACCGGCT	0.622000													16	77					0	0	1	0	0
ROS1	6098	broad.mit.edu	37	6	117683989	117683989	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:117683989G>C	ENST00000368508.3	-	21	3356	c.3158C>G	c.(3157-3159)cCa>cGa	p.P1053R	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.P1048R	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1053	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTTTCCACTTGGTAATATAAA	0.348000			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""								13	55					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272832	65272832	+	RNA	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:65272832G>A	ENST00000534336.1	+	0	7600					NR_002819.2																						TGAAGCATCCGAAGGAATGCT	0.423000													21	42					0	0	1	0	0
TNRC6A	27327	broad.mit.edu	37	16	24803020	24803020	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:24803020G>A	ENST00000395799.3	+	6	3186	c.3057G>A	c.(3055-3057)gtG>gtA	p.V1019V	TNRC6A_ENST00000315183.7_Silent_p.V1019V	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1019	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ACAAAAATGTGAACATGTGGA	0.468000													11	93					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272679	65272679	+	RNA	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:65272679G>A	ENST00000534336.1	+	0	7447					NR_002819.2																						TAAAGGCACCGAAGGCTTAAA	0.502000													24	48					0	0	1	0	0
MPP2	4355	broad.mit.edu	37	17	41957217	41957217	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:41957217G>A	ENST00000269095.4	-	11	1590	c.1286C>T	c.(1285-1287)aCa>aTa	p.T429I	MPP2_ENST00000461854.1_Missense_Mutation_p.T453I|MPP2_ENST00000523501.1_Missense_Mutation_p.T418I|MPP2_ENST00000377184.3_Missense_Mutation_p.T446I|MPP2_ENST00000536246.1_Missense_Mutation_p.T418I|MPP2_ENST00000518766.1_Missense_Mutation_p.T474I|MPP2_ENST00000520305.1_Missense_Mutation_p.T290I	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	453	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		GTCAATACGTGTGCCATACAG	0.627000											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	37	78					0	0	1	0	0
KCNT2	343450	broad.mit.edu	37	1	196250089	196250089	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:196250089G>A	ENST00000367433.5	-	24	2840	c.2739C>T	c.(2737-2739)atC>atT	p.I913I	KCNT2_ENST00000367431.4_Silent_p.I863I|KCNT2_ENST00000609185.1_Silent_p.I863I|KCNT2_ENST00000294725.9_Silent_p.I937I|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	937						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATAAGTTCTGATCCATAAGT	0.348000													91	2					0	0	1	0	0
CLK4	57396	broad.mit.edu	37	5	178050303	178050303	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:178050303C>T	ENST00000316308.4	-	2	283	c.115G>A	c.(115-117)Gag>Aag	p.E39K	CLK4_ENST00000520957.1_Missense_Mutation_p.E39K	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	39						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E39Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TGCCTGTTCTCTTGTGTGCTA	0.388000													55	53					0	0	1	0	0
TUBA1C	84790	broad.mit.edu	37	12	49666750	49666750	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:49666750C>A	ENST00000301072.6	+	4	1365	c.1090C>A	c.(1090-1092)Cct>Act	p.P364T	RP11-161H23.5_ENST00000550468.2_RNA|TUBA1C_ENST00000541364.1_Missense_Mutation_p.P434T	NM_032704.3	NP_116093.1	Q9BQE3	TBA1C_HUMAN	tubulin, alpha 1c	364					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			endometrium(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)	13						CACTGTGGTGCCTGGCGGAGA	0.562000													74	48					1.15062e-32	1.30336e-32	1	1	0
PLEC	5339	broad.mit.edu	37	8	144992886	144992886	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:144992886C>G	ENST00000322810.4	-	32	11683	c.11514G>C	c.(11512-11514)agG>agC	p.R3838S	PLEC_ENST00000357649.2_Missense_Mutation_p.R3705S|PLEC_ENST00000436759.2_Missense_Mutation_p.R3728S|PLEC_ENST00000527096.1_Missense_Mutation_p.R3724S|PLEC_ENST00000354958.2_Missense_Mutation_p.R3679S|PLEC_ENST00000345136.3_Missense_Mutation_p.R3701S|PLEC_ENST00000356346.3_Missense_Mutation_p.R3687S|PLEC_ENST00000354589.3_Missense_Mutation_p.R3701S|PLEC_ENST00000398774.2_Missense_Mutation_p.R3669S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3838	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCAGTGTCTGCCTGGAACCGG	0.662000													22	88					0	0	1	0	0
PIGF	5281	broad.mit.edu	37	2	46815287	46815287	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:46815287C>G	ENST00000306465.4	-	6	680	c.578G>C	c.(577-579)aGa>aCa	p.R193T	PIGF_ENST00000281382.6_Intron	NM_173074.2	NP_775097.1	Q07326	PIGF_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class F	0					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			atggagagatctataagtgct	0.383000													15	64					0	0	1	0	0
SRPR	6734	broad.mit.edu	37	11	126135303	126135303	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:126135303C>G	ENST00000332118.6	-	10	1325	c.1171G>C	c.(1171-1173)Gag>Cag	p.E391Q	SRPR_ENST00000532259.1_Missense_Mutation_p.E363Q	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	391					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ACCAGGGACTCCTGTAGGGCT	0.557000													49	31					0	0	1	0	0
CEBPB	1051	broad.mit.edu	37	20	48808576	48808576	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:48808576G>T	ENST00000303004.3	+	1	1201	c.1006G>T	c.(1006-1008)Gag>Tag	p.E336*		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	336					acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			GCAGCTGCCCGAGCCCCTGCT	0.746000													6	8					3.59834e-05	3.71441e-05	1	1	0
ISM1	140862	broad.mit.edu	37	20	13251266	13251266	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:13251266G>T	ENST00000262487.4	+	2	260	c.254G>T	c.(253-255)cGa>cTa	p.R85L	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor							extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCCAGACCGCGATTCCGACAA	0.507000													3	50					0.004672	0.00474616	1	1	0
EPHA5	2044	broad.mit.edu	37	4	66356360	66356360	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:66356360C>A	ENST00000273854.3	-	5	1737	c.1137G>T	c.(1135-1137)ccG>ccT	p.P379P	EPHA5_ENST00000432638.2_Intron|EPHA5_ENST00000354839.4_Silent_p.P379P|EPHA5_ENST00000511294.1_Silent_p.P379P	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	379	Fibronectin type-III 1.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGTCAGCAGGCGGAATCCATT	0.458000										TSP Lung(17;0.13)			9	47					0.000274275	0.000280858	1	1	0
ANKRD36C	400986	broad.mit.edu	37	2	96521777	96521777	+	Missense_Mutation	SNP	T	T	C	rs77768218		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:96521777T>C	ENST00000456556.1	-	63	4316	c.4232A>G	c.(4231-4233)cAt>cGt	p.H1411R	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.H438R|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.H662R					ankyrin repeat domain 36C									p.H662R(6)|p.H1411R(3)		breast(1)|endometrium(8)|kidney(5)|lung(4)	18						AAGGTCTTCATGCTTTCTTTT	0.383000													3	61					0	0	1	0	0
PDE3A	5139	broad.mit.edu	37	12	20786637	20786637	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:20786637C>A	ENST00000359062.3	+	7	1811	c.1771C>A	c.(1771-1773)Cca>Aca	p.P591T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	591					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CTGTGGCAGACCATATTCCCA	0.418000													18	27					2.48551e-13	2.67348e-13	1	1	0
IL18RAP	8807	broad.mit.edu	37	2	103063657	103063657	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:103063657G>C	ENST00000264260.2	+	10	1789	c.1200G>C	c.(1198-1200)caG>caC	p.Q400H	IL18RAP_ENST00000409369.1_Missense_Mutation_p.Q258H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	400					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GCAAGGATCAGACGCTTGGGG	0.557000													225	180					0	0	1	0	0
CSRP2BP	57325	broad.mit.edu	37	20	18142726	18142726	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:18142726G>C	ENST00000435364.3	+	5	1286	c.945G>C	c.(943-945)ttG>ttC	p.L315F	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.L314F|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.L187F	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						TTTCCTCCTTGAGCTCCTCTG	0.527000													101	230					0	0	1	0	0
ATAD5	79915	broad.mit.edu	37	17	29161248	29161248	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:29161248G>C	ENST00000321990.4	+	2	527	c.149G>C	c.(148-150)aGa>aCa	p.R50T		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	50					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GGGAAGACTAGAGACAGGGTT	0.368000													31	89					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179617850	179617850	+	Splice_Site	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:179617850C>A	ENST00000589042.1	-	47	11536		c.e47+1		TTN_ENST00000342175.6_Splice_Site|TTN_ENST00000591111.1_Splice_Site|TTN_ENST00000342992.6_Splice_Site|TTN_ENST00000359218.5_Splice_Site|TTN_ENST00000460472.2_Splice_Site|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000360870.5_Splice_Site|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATAACAATACCTTTCATTTC	0.294000													5	12					1.23904e-05	1.28246e-05	1	1	0
OPN1SW	611	broad.mit.edu	37	7	128415628	128415628	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:128415628G>C	ENST00000249389.2	-	1	216	c.217C>G	c.(217-219)Ctg>Gtg	p.L73V		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	73					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						ACGTTGACCAGAATGTAGTTG	0.537000													174	41					0	0	1	0	0
KIAA0141	9812	broad.mit.edu	37	5	141309811	141309811	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:141309811C>T	ENST00000432126.2	+	7	860	c.726C>T	c.(724-726)ctC>ctT	p.L242L	KIAA0141_ENST00000194118.4_Silent_p.L242L	NM_001142603.1|NM_014773.3	NP_001136075.1|NP_055588.3	Q14154	DELE_HUMAN	KIAA0141	242					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTTCCAGCTCAGTGTTTCCA	0.473000													11	24					0	0	1	0	0
RBM39	9584	broad.mit.edu	37	20	34292504	34292504	+	Splice_Site	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:34292504C>G	ENST00000361162.6	-	17	1859		c.e17-1		RBM39_ENST00000407261.4_Splice_Site|RBM39_ENST00000253363.6_Splice_Site|RBM39_ENST00000528062.3_Splice_Site	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39						mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					ATCATTTTACCTATTAAAAGA	0.378000													80	117					0	0	1	0	0
KIF16B	55614	broad.mit.edu	37	20	16359942	16359942	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:16359942A>C	ENST00000354981.2	-	19	2862	c.2705T>G	c.(2704-2706)cTg>cGg	p.L902R	KIF16B_ENST00000355755.3_Missense_Mutation_p.L902R|KIF16B_ENST00000378003.2_Missense_Mutation_p.L128R|KIF16B_ENST00000408042.1_Missense_Mutation_p.L902R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	902	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTTATATTGCAGCCTGTACTC	0.433000													83	70					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150479406	150479406	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:150479406G>A	ENST00000369064.3	+	18	2057	c.2023G>A	c.(2023-2025)Gag>Aag	p.E675K	TARS2_ENST00000606933.1_Missense_Mutation_p.E593K|TARS2_ENST00000369054.2_Missense_Mutation_p.E545K	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	675					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TGGCCAGAAAGAGCAAAGTAA	0.507000													29	188					0	0	1	0	0
PPP1R15A	23645	broad.mit.edu	37	19	49377076	49377076	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:49377076G>A	ENST00000200453.5	+	2	855	c.586G>A	c.(586-588)Gaa>Aaa	p.E196K		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	196	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding	p.E196K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GGAGGACGATGAAGAAGCTGT	0.532000													7	129					0	0	1	0	0
RHOB	388	broad.mit.edu	37	2	20647365	20647365	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:20647365G>A	ENST00000272233.4	+	1	531	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_004040.2	NP_004031.1	P62745	RHOB_HUMAN	ras homolog family member B	47					angiogenesis|axon guidance|cell adhesion|endosome to lysosome transport|negative regulation of cell cycle|platelet activation|positive regulation of angiogenesis|protein transport|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|transformed cell apoptosis	cytosol|late endosome membrane|nucleus|plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|kidney(1)|lung(2)|ovary(1)|urinary_tract(2)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)	all_epithelial(98;4.19e-09)|Lung NSC(108;0.00452)|Ovarian(717;0.0164)		OV - Ovarian serous cystadenocarcinoma(76;1.14e-22)|Epithelial(75;7.84e-19)		GGCCGACATTGAGGTGGACGG	0.647000													28	101					0	0	1	0	0
HECW1	23072	broad.mit.edu	37	7	43484767	43484767	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:43484767G>A	ENST00000395891.2	+	11	2601	c.1996G>A	c.(1996-1998)Ggg>Agg	p.G666R	HECW1_ENST00000453890.1_Missense_Mutation_p.G666R	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGGCAAGGCGGGGACCACAG	0.692000													10	78					0	0	1	0	0
A1CF	29974	broad.mit.edu	37	10	52601629	52601629	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:52601629C>T	ENST00000374001.2	-	4	497	c.358G>A	c.(358-360)Gaa>Aaa	p.E120K	A1CF_ENST00000373993.1_Missense_Mutation_p.E120K|A1CF_ENST00000395495.1_Missense_Mutation_p.E120K|A1CF_ENST00000373997.3_Missense_Mutation_p.E120K|A1CF_ENST00000373995.3_Missense_Mutation_p.E128K|A1CF_ENST00000282641.2_Missense_Mutation_p.E120K|A1CF_ENST00000395489.2_Missense_Mutation_p.E113K			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor		RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TACCTAATTTCATAATTATTA	0.318000													13	36					0	0	1	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135761777	135761777	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:135761777G>A	ENST00000250617.6	-	16	2952	c.1747C>T	c.(1747-1749)Cct>Tct	p.P583S	ARHGEF6_ENST00000370620.1_Missense_Mutation_p.P429S|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.P429S|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.P456S	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	583					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					ATAATTTGAGGAGGCTCCAAG	0.473000													7	143					0	0	1	0	0
TTLL3	26140	broad.mit.edu	37	3	9862298	9862298	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:9862298C>G	ENST00000547186.1	+	7	814	c.598C>G	c.(598-600)Ctg>Gtg	p.L200V	TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000383827.1_5'UTR|TTLL3_ENST00000455274.1_5'UTR|TTLL3_ENST00000430793.1_5'UTR|TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.L343V|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.L261V	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	200	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					GGATGAAGCTCTGTGTGCGTG	0.582000													66	202					0	0	1	0	0
ZFHX4	79776	broad.mit.edu	37	8	77763532	77763532	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:77763532C>T	ENST00000521891.2	+	10	4823	c.4375C>T	c.(4375-4377)Cta>Tta	p.L1459L	ZFHX4_ENST00000050961.6_Silent_p.L1414L|ZFHX4_ENST00000455469.2_Silent_p.L1414L|ZFHX4_ENST00000518282.1_Silent_p.L1433L	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1414						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACTTCAACAGCTATATGCCTC	0.493000										HNSCC(33;0.089)			13	38					0	0	1	0	0
RTN2	6253	broad.mit.edu	37	19	45996515	45996515	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:45996515G>T	ENST00000590526.1	-	5	1240	c.114C>A	c.(112-114)ccC>ccA	p.P38P	PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'UTR|RTN2_ENST00000344680.4_Intron|RTN2_ENST00000245923.4_Silent_p.P312P			O75298	RTN2_HUMAN	reticulon 2	312						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		CAGGAGTAGGGGGGGTGGGGC	0.562000													28	234					5.61819e-17	6.14639e-17	1	1	0
WNT2	7472	broad.mit.edu	37	7	116960744	116960744	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:116960744G>A	ENST00000265441.3	-	2	486	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	63					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTAATGGCACGCATCACATCT	0.607000													35	6					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186270756	186270756	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:186270756T>A	ENST00000445192.2	+	4	277	c.232T>A	c.(232-234)Ttc>Atc	p.F78I	PRG4_ENST00000367486.3_Missense_Mutation_p.F78I|PRG4_ENST00000367485.4_Missense_Mutation_p.F78I|PRG4_ENST00000367484.3_Missense_Mutation_p.F37I|PRG4_ENST00000367483.4_Missense_Mutation_p.F37I	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	78	SMB 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CTTTGAGTCCTTCGAGAGAGG	0.483000													115	0					0	0	1	0	0
BCO2	83875	broad.mit.edu	37	11	112050172	112050172	+	Missense_Mutation	SNP	T	T	C	rs112483486	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:112050172T>C	ENST00000357685.5	+	2	395	c.260T>C	c.(259-261)aTt>aCt	p.I87T	BCO2_ENST00000531169.1_Missense_Mutation_p.I53T|BCO2_ENST00000438022.1_Missense_Mutation_p.I53T|BCO2_ENST00000361053.4_Missense_Mutation_p.I87T|BCO2_ENST00000526088.1_Missense_Mutation_p.I53T|BCO2_ENST00000532593.1_Intron|SDHD_ENST00000525468.1_Intron|AP002884.3_ENST00000532612.1_Missense_Mutation_p.I58T|BCO2_ENST00000393032.2_Missense_Mutation_p.I53T|SDHD_ENST00000532699.1_Intron			Q9BYV7	BCDO2_HUMAN	beta-carotene oxygenase 2	87					carotene metabolic process|retinal metabolic process|retinoic acid metabolic process		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)	16						CTACTTCGAATTGGACCTGGG	0.493000													4	97					0	0	1	0	0
KIAA0100	9703	broad.mit.edu	37	17	26958634	26958634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:26958634G>A	ENST00000528896.2	-	23	4236	c.4162C>T	c.(4162-4164)Cag>Tag	p.Q1388*	KIAA0100_ENST00000544884.1_Nonsense_Mutation_p.Q1245*|KIAA0100_ENST00000389003.3_Nonsense_Mutation_p.Q1245*	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1388						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					ACGGTCACCTGACTTAGGTCA	0.527000													25	83					0	0	1	0	0
AKAP6	9472	broad.mit.edu	37	14	33291368	33291368	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:33291368C>T	ENST00000280979.4	+	13	4519	c.4349C>T	c.(4348-4350)aCc>aTc	p.T1450I	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1450					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ACCAAACATACCCCTGACTGT	0.373000													30	28					0	0	1	0	0
FANK1	92565	broad.mit.edu	37	10	127697960	127697960	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:127697960G>C	ENST00000368695.1	+	11	1095	c.973G>C	c.(973-975)Gaa>Caa	p.E325Q	FANK1_ENST00000368693.1_Missense_Mutation_p.E331Q|FANK1_ENST00000477963.1_3'UTR	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	331						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				CTCCTTATTAGAAGAAAGGAA	0.413000													19	51					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61836204	61836204	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:61836204C>T	ENST00000280772.2	-	37	4626	c.4435G>A	c.(4435-4437)Gaa>Aaa	p.E1479K	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						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						GTACTCCGTTCAACTGTTTCT	0.378000													30	10					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50905324	50905324	+	Missense_Mutation	SNP	G	G	T	rs140707092		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:50905324G>T	ENST00000440232.2	+	5	585	c.532G>T	c.(532-534)Ggg>Tgg	p.G178W	POLD1_ENST00000599857.1_Missense_Mutation_p.G178W|POLD1_ENST00000595904.1_Missense_Mutation_p.G178W	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	178					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGACAGTCGCGGGGGGAGGGA	0.672000								DNA polymerases (catalytic subunits)					49	53					8.72198e-27	9.82182e-27	1	1	0
ZNF721	170960	broad.mit.edu	37	4	436965	436965	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:436965T>C	ENST00000338977.5	-	2	1303	c.1255A>G	c.(1255-1257)Aac>Gac	p.N419D	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000511833.2_Missense_Mutation_p.N431D					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCATTCAGGTTTGTGGACAAT	0.373000													6	44					0	0	1	0	0
CKS1B	1163	broad.mit.edu	37	1	154951211	154951211	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:154951211C>T	ENST00000368439.1	+	3	399	c.150C>T	c.(148-150)atC>atT	p.I50I	CKS1B_ENST00000308987.5_Silent_p.I66I|CKS1B_ENST00000471245.1_3'UTR			P61024	CKS1_HUMAN	CDC28 protein kinase regulatory subunit 1B	66					cell division|cell proliferation|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	nucleoplasm	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|large_intestine(1)|lung(1)	3	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACCTCACATCTTGCTGTTCC	0.458000													48	3					0	0	1	0	0
PSMB8	5696	broad.mit.edu	37	6	32809989	32809989	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:32809989C>A	ENST00000374881.2	-	4	736	c.447G>T	c.(445-447)aaG>aaT	p.K149N	PSMB8_ENST00000374882.3_Missense_Mutation_p.K153N|PSMB8_ENST00000395339.3_Missense_Mutation_p.K129N	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	153					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|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|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TGGACAGCAGCTTGGAGGCTG	0.522000													48	47					2.56175e-15	2.79463e-15	1	1	0
PHLDB2	90102	broad.mit.edu	37	3	111664202	111664202	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:111664202G>C	ENST00000431670.2	+	9	2896	c.2485G>C	c.(2485-2487)Gag>Cag	p.E829Q	PHLDB2_ENST00000393923.3_Missense_Mutation_p.E813Q|PHLDB2_ENST00000481953.1_Missense_Mutation_p.E786Q|PHLDB2_ENST00000495180.1_Missense_Mutation_p.E415Q|PHLDB2_ENST00000393925.3_Missense_Mutation_p.E829Q|PHLDB2_ENST00000412622.1_Missense_Mutation_p.E786Q	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	829						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TACTTTAAAAGAGGTAAGCTA	0.348000													27	20					0	0	1	0	0
ERBB3	2065	broad.mit.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:56478854G>T	ENST00000267101.3	+	3	750	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	ERBB3_ENST00000450146.2_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45L|ERBB3_ENST00000411731.2_Missense_Mutation_p.V104L	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation).		cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517000													94	70					1.00155e-58	1.16898e-58	1	1	0
TP53	7157	broad.mit.edu	37	17	7577085	7577085	+	Missense_Mutation	SNP	C	C	T	rs112431538		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:7577085C>T	ENST00000420246.2	-	8	985	c.853G>A	c.(853-855)Gag>Aag	p.E285K	TP53_ENST00000455263.2_Missense_Mutation_p.E285K|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.E285K|TP53_ENST00000359597.4_Missense_Mutation_p.E285K|TP53_ENST00000445888.2_Missense_Mutation_p.E285K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	285	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> V (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.E285K(111)|p.E285*(24)|p.0?(8)|p.E285Q(4)|p.?(2)|p.R283fs*16(2)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E285fs*60(1)|p.G279fs*59(1)|p.R283fs*56(1)|p.E285fs*20(1)|p.E285fs*13(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		TTCTCTTCCTCTGTGCGCCGG	0.562000		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)			73	2					0	0	1	0	0
PRKAB1	5564	broad.mit.edu	37	12	120106160	120106160	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:120106160G>A	ENST00000229328.5	+	1	603	c.111G>A	c.(109-111)ctG>ctA	p.L37L	PRKAB1_ENST00000541640.1_Silent_p.L37L	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	37					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol		p.L37L(1)		endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	CCAAGATCCTGATGGACAGCC	0.647000													27	15					0	0	1	0	0
CIITA	4261	broad.mit.edu	37	16	11002842	11002842	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:11002842C>G	ENST00000381835.5	+	10	983	c.862C>G	c.(862-864)Cta>Gta	p.L288V	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000324288.8_Intron			P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	0					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCATTAAGGTCTAGCCTGGTC	0.567000			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """								30	19					0	0	1	0	0
PCDHB5	26167	broad.mit.edu	37	5	140516673	140516673	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:140516673G>A	ENST00000231134.5	+	1	1874	c.1657G>A	c.(1657-1659)Gcc>Acc	p.A553T		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		553	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGACGCCAACGACAA	0.716000													23	56					0	0	1	0	0
MEFV	4210	broad.mit.edu	37	16	3304269	3304269	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:3304269T>C	ENST00000219596.1	-	2	838	c.799A>G	c.(799-801)Aca>Gca	p.T267A	MEFV_ENST00000541159.1_Intron|MEFV_ENST00000339854.4_Intron|MEFV_ENST00000536379.1_Intron	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	267			T -> I (in arFMF).		inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	TTCGCAGCTGTCTTTTCCTCT	0.572000													6	240					0	0	1	0	0
NOX4	50507	broad.mit.edu	37	11	89184974	89184974	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:89184974A>G	ENST00000535633.1	-	3	481	c.171T>C	c.(169-171)gcT>gcC	p.A57A	NOX4_ENST00000542487.1_Silent_p.A57A|NOX4_ENST00000263317.4_Silent_p.A81A|NOX4_ENST00000527956.1_Silent_p.A57A|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000534731.1_Silent_p.A81A|NOX4_ENST00000424319.1_Silent_p.A57A|NOX4_ENST00000525196.1_Silent_p.A81A|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000413594.2_Silent_p.A102A|NOX4_ENST00000343727.5_Silent_p.A57A|NOX4_ENST00000528341.1_Silent_p.A56A|NOX4_ENST00000532825.1_Silent_p.A57A|NOX4_ENST00000531342.1_Intron	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	81					cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CTCGGAGGTAAGCCAAGAGTG	0.408000													13	90					0	0	1	0	0
RXRA	6256	broad.mit.edu	37	9	137328351	137328351	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:137328351C>A	ENST00000540193.1	+	9	1912	c.989C>A	c.(988-990)tCc>tAc	p.S330Y	RXRA_ENST00000481739.1_Missense_Mutation_p.S427Y|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	427	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCTCTGCGCTCCATCGGGCTC	0.607000													73	47					5.05997e-48	5.87017e-48	1	1	0
CDH8	1006	broad.mit.edu	37	16	61747750	61747750	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:61747750T>C	ENST00000577390.1	-	10	2603	c.1649A>G	c.(1648-1650)aAt>aGt	p.N550S	CDH8_ENST00000299345.6_Missense_Mutation_p.N550S|CDH8_ENST00000580044.1_5'UTR|CDH8_ENST00000577730.1_Missense_Mutation_p.N550S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	550	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTACCTTCATTTTTCTTGAT	0.308000													8	18					0	0	1	0	0
EFEMP1	2202	broad.mit.edu	37	2	56144828	56144828	+	Nonsense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:56144828G>C	ENST00000394555.2	-	4	924	c.489C>G	c.(487-489)taC>taG	p.Y163*	EFEMP1_ENST00000355426.3_Nonsense_Mutation_p.Y163*|EFEMP1_ENST00000424836.2_Nonsense_Mutation_p.Y105*|EFEMP1_ENST00000394554.1_Nonsense_Mutation_p.Y163*	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	163					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CACTTTGCTCGTAGCCTGCTG	0.507000													58	225					0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113975875	113975875	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr13:113975875C>T	ENST00000332556.4	+	8	1141	c.947C>T	c.(946-948)cCt>cTt	p.P316L	LAMP1_ENST00000397181.3_Missense_Mutation_p.P263L	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	316	Second lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GTTGCAGACCCTGCCTTTAAA	0.637000													90	50					0	0	1	0	0
FGFR3	2261	broad.mit.edu	37	4	1803738	1803738	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:1803738G>A	ENST00000340107.4	+	7	1172	c.916G>A	c.(916-918)Gtt>Att	p.V306I	FGFR3_ENST00000474521.1_3'UTR|FGFR3_ENST00000481110.2_Missense_Mutation_p.V306I|FGFR3_ENST00000412135.2_Missense_Mutation_p.V306I|FGFR3_ENST00000352904.1_Missense_Mutation_p.V306I|FGFR3_ENST00000260795.2_Missense_Mutation_p.V306I|FGFR3_ENST00000440486.2_Missense_Mutation_p.V306I	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	306	Ig-like C2-type 3.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CACACCCTACGTTACCGTGCT	0.667000		1	"""Mis, T"""	"""IGH@, ETV6"""	"""bladder, MM, T-cell lymphoma"""		"""Hypochondroplasia, Thanatophoric dysplasia"""		Saethre-Chotzen syndrome;Muenke syndrome				5	10					0	0	1	0	0
ROBO2	6092	broad.mit.edu	37	3	77637928	77637928	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:77637928G>C	ENST00000461745.1	+	17	3427	c.2527G>C	c.(2527-2529)Gaa>Caa	p.E843Q	ROBO2_ENST00000487694.3_Missense_Mutation_p.E859Q|ROBO2_ENST00000332191.8_Missense_Mutation_p.E843Q	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	843					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TGTCATTACTGAAAACAATAA	0.373000													45	57					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65272398	65272398	+	RNA	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:65272398G>A	ENST00000534336.1	+	0	7166					NR_002819.2																						TAAATGTGGGGATTGGGAACC	0.403000													7	26					0	0	1	0	0
GLI1	2735	broad.mit.edu	37	12	57864227	57864227	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:57864227C>T	ENST00000228682.2	+	12	1795	c.1704C>T	c.(1702-1704)ggC>ggT	p.G568G	GLI1_ENST00000546141.1_Silent_p.G527G|GLI1_ENST00000543426.1_Silent_p.G440G	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	568					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCCCCCCTGGCTCCCCACCAG	0.622000													23	100					0	0	1	0	0
TCP11L1	55346	broad.mit.edu	37	11	33078731	33078731	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:33078731G>T	ENST00000334274.4	+	4	767	c.367G>T	c.(367-369)Gat>Tat	p.D123Y	TCP11L1_ENST00000531632.2_Missense_Mutation_p.D123Y|TCP11L1_ENST00000530171.1_Intron|TCP11L1_ENST00000432887.1_Missense_Mutation_p.D123Y	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	123										kidney(1)|liver(2)|lung(2)|skin(1)	6						GCTAAGTGAAGATCCCCCAGC	0.433000													70	181					3.94896e-32	4.46001e-32	1	1	0
RTN4IP1	84816	broad.mit.edu	37	6	107040127	107040127	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:107040127C>A	ENST00000369063.3	-	6	1183	c.718G>T	c.(718-720)Gcc>Tcc	p.A240S	RTN4IP1_ENST00000539449.1_Intron	NM_032730.4	NP_116119.2	Q8WWV3	RT4I1_HUMAN	reticulon 4 interacting protein 1	240						mitochondrion	oxidoreductase activity|zinc ion binding			breast(1)|kidney(3)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;9.45e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0144)	Epithelial(6;0.000873)|all cancers(7;0.00363)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0394)	all cancers(137;0.113)|BRCA - Breast invasive adenocarcinoma(108;0.127)|Epithelial(106;0.144)		AGTTCACTGGCATCTTGGGAG	0.398000													56	47					1.86277e-20	2.05547e-20	1	1	0
TANK	10010	broad.mit.edu	37	2	162088031	162088031	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:162088031C>A	ENST00000392749.2	+	7	1309	c.1070C>A	c.(1069-1071)tCc>tAc	p.S357Y	AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.S357Y|TANK_ENST00000259075.2_Missense_Mutation_p.S357Y|TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000421122.2_RNA	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	357						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						TCACTCGATTCCCCGGGAAAA	0.428000													55	65					7.22619e-39	8.30795e-39	1	1	0
GLRA3	8001	broad.mit.edu	37	4	175749928	175749928	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:175749928G>A	ENST00000274093.3	-	1	537	c.35C>T	c.(34-36)tCg>tTg	p.S12L	GLRA3_ENST00000340217.5_Missense_Mutation_p.S12L	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	12					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.S12L(1)		endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTAAAATCCCGAAACTAATGT	0.458000													21	29					0	0	1	0	0
INTS1	26173	broad.mit.edu	37	7	1524940	1524940	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:1524940G>C	ENST00000389470.4	-	24	3627	c.3628C>G	c.(3628-3630)Ctg>Gtg	p.L1210V	INTS1_ENST00000404767.3_Missense_Mutation_p.L1048V			Q8N201	INT1_HUMAN	integrator complex subunit 1	1048					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TGCAGGGCCAGGGCTGTGGTG	0.687000													14	89					0	0	1	0	0
ROCK2	9475	broad.mit.edu	37	2	11338883	11338883	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:11338883C>T	ENST00000315872.6	-	24	3376	c.2928G>A	c.(2926-2928)agG>agA	p.R976R	ROCK2_ENST00000401753.1_Silent_p.R733R	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	976					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		TAGTTAGTGTCCTATTAGTTT	0.279000													11	33					0	0	1	0	0
KCNU1	157855	broad.mit.edu	37	8	36693884	36693884	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:36693884G>A	ENST00000399881.3	+	13	1402		c.e13+1			NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1							voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCATAACAAGGTATAGTAACA	0.333000													3	21					0	0	1	0	0
ELP2	55250	broad.mit.edu	37	18	33744590	33744590	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:33744590G>A	ENST00000358232.6	+	18	1977	c.1914G>A	c.(1912-1914)tgG>tgA	p.W638*	ELP2_ENST00000351393.6_Nonsense_Mutation_p.W612*|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Nonsense_Mutation_p.W633*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.W568*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.W703*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.W568*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	638					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						ATCGAACCTGGTCATTGTGGA	0.398000													29	32					0	0	1	0	0
DOCK3	1795	broad.mit.edu	37	3	51264853	51264853	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:51264853G>A	ENST00000266037.9	+	16	1540	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	506	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCCACCTGCGCTTTGAGTTC	0.468000													82	103					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65267925	65267925	+	RNA	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:65267925C>A	ENST00000534336.1	+	0	2693					NR_002819.2																						GACAGGATTCCAGGAACCAGT	0.473000													21	51					1.50039e-11	1.60042e-11	1	1	0
GTPBP8	29083	broad.mit.edu	37	3	112710056	112710056	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:112710056C>T	ENST00000383677.3	+	1	225	c.210C>T	c.(208-210)atC>atT	p.I70I	GTPBP8_ENST00000383678.2_Silent_p.I70I	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	70					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						ACCTGCGTATCTTTGACCCAA	0.622000													25	48					0	0	1	0	0
C12orf66	144577	broad.mit.edu	37	12	64588164	64588164	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:64588164G>A	ENST00000311915.8	-	3	823	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	C12orf66_ENST00000544871.1_Missense_Mutation_p.L213F|C12orf66_ENST00000398055.3_Missense_Mutation_p.L266F			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	266										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						AACTTGGCAAGAAGCATGTTT	0.463000													43	109					0	0	1	0	0
TRAPPC13	80006	broad.mit.edu	37	5	64954221	64954221	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:64954221G>C	ENST00000399438.3	+	9	936	c.591G>C	c.(589-591)caG>caC	p.Q197H	TRAPPC13_ENST00000505553.1_Missense_Mutation_p.Q191H|TRAPPC13_ENST00000438419.2_Missense_Mutation_p.Q197H|TRAPPC13_ENST00000545191.1_Missense_Mutation_p.Q198H|TRAPPC13_ENST00000231526.4_Missense_Mutation_p.Q191H	NM_001093755.1|NM_024941.3	NP_001087224.1|NP_079217.2			trafficking protein particle complex 13																		TGGAAGCCCAGATTCAGAATA	0.353000													7	4					0	0	1	0	0
DNPEP	23549	broad.mit.edu	37	2	220251131	220251131	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:220251131C>T	ENST00000273075.4	-	5	556	c.336G>A	c.(334-336)gtG>gtA	p.V112V	DNPEP_ENST00000523282.1_Silent_p.V120V|DNPEP_ENST00000373972.1_Silent_p.V37V	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	102					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ACCGACGTTTCACCTGAGTGT	0.517000													23	80					0	0	1	0	0
PIK3C2A	5286	broad.mit.edu	37	11	17113138	17113138	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:17113138G>A	ENST00000265970.7	-	30	4707	c.4708C>T	c.(4708-4710)Cga>Tga	p.R1570*	PIK3C2A_ENST00000540361.1_Nonsense_Mutation_p.R1190*|PIK3C2A_ENST00000531428.1_5'UTR	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1570	C2.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GTACCATTTCGGTAAGAGATG	0.388000													42	33					0	0	1	0	0
ABCA6	23460	broad.mit.edu	37	17	67075206	67075206	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:67075206C>G	ENST00000284425.2	-	39	4936	c.4762G>C	c.(4762-4764)Gag>Cag	p.E1588Q	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1588					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTAGAAAGCTCTAAGAATACC	0.353000													22	26					0	0	1	0	0
SCAPER	49855	broad.mit.edu	37	15	76958034	76958034	+	Nonsense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:76958034T>A	ENST00000538941.2	-	21	2806	c.1867A>T	c.(1867-1869)Aaa>Taa	p.K623*	SCAPER_ENST00000324767.7_Nonsense_Mutation_p.K869*|SCAPER_ENST00000563290.1_Nonsense_Mutation_p.K869*	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	868	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GCTTTTTTTTTATTTTTTTGC	0.348000													3	2					0	0	1	0	0
KCNH7	90134	broad.mit.edu	37	2	163256815	163256815	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:163256815G>T	ENST00000332142.5	-	10	2390	c.2291C>A	c.(2290-2292)aCc>aAc	p.T764N		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	764					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AGGTGCATGGGTGGTTTTGAA	0.458000													136	110					5.32379e-58	6.19496e-58	1	1	0
KDM5D	8284	broad.mit.edu	37	Y	21878276	21878276	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrY:21878276C>G	ENST00000541639.1	-	16	2300	c.2013G>C	c.(2011-2013)aaG>aaC	p.K671N	KDM5D_ENST00000382806.2_Missense_Mutation_p.K583N|KDM5D_ENST00000317961.4_Missense_Mutation_p.K640N	NM_001146705.1	NP_001140177.1	Q9BY66	KDM5D_HUMAN	lysine (K)-specific demethylase 5D	640					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	AGGCAGCCATCTTGCAGATGA	0.552000													48	4					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	154998788	154998788	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:154998788G>A	ENST00000368424.3	-	10	1659	c.1601C>T	c.(1600-1602)tCc>tTc	p.S534F	DCST2_ENST00000295536.5_Missense_Mutation_p.S534F	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	534						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTGCTCCCGGGATGGGTAGTA	0.617000													26	120					0	0	1	0	0
LOC101927060	101927060	broad.mit.edu	37	17	45128792	45128792	+	RNA	SNP	G	G	T	rs143713325	by1000genomes	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:45128792G>T	ENST00000575173.1	-	0	418																											AATTCAGGTTGTCAGAATGCA	0.373000													3	23					0.004672	0.00474616	1	1	0
GOLGA8EP	390535	broad.mit.edu	37	15	23437917	23437917	+	RNA	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:23437917C>A	ENST00000526079.1	+	0	355					NR_027407.1|NR_033350.1																						GCAGTAGTCCCAGACTCGAGG	0.547000													13	7					7.03913e-09	7.44635e-09	1	1	0
SLC6A8	6535	broad.mit.edu	37	X	152959662	152959662	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:152959662G>T	ENST00000253122.5	+	9	1808	c.1332G>T	c.(1330-1332)gaG>gaT	p.E444D	SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Missense_Mutation_p.E329D	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	444					creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	TCCAAAGGGAGATCTCTGTGG	0.607000													100	5					2.9551e-36	3.38734e-36	1	1	0
EP300	2033	broad.mit.edu	37	22	41553350	41553350	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:41553350G>T	ENST00000263253.7	+	18	4658	c.3439G>T	c.(3439-3441)Gag>Tag	p.E1147*		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1147					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAAGCTCTCTGAGGTCTTTGA	0.403000			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				48	53					1.23713e-20	1.36904e-20	1	1	0
GRIN2D	2906	broad.mit.edu	37	19	48919324	48919324	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:48919324C>T	ENST00000263269.3	+	7	1735	c.1647C>T	c.(1645-1647)atC>atT	p.I549I		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	549						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GCTCCGAGATCGTGGACTTCT	0.662000													36	118					0	0	1	0	0
POLI	11201	broad.mit.edu	37	18	51804150	51804150	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:51804150G>C	ENST00000579534.1	+	4	627	c.484G>C	c.(484-486)Gag>Cag	p.E162Q	POLI_ENST00000406285.3_Missense_Mutation_p.E162Q|POLI_ENST00000579434.1_Missense_Mutation_p.E59Q|POLI_ENST00000217800.5_Missense_Mutation_p.E36Q	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	162	UmuC.				DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AGAAATGGTTGAGAAGAGACT	0.373000								DNA polymerases (catalytic subunits)					14	17					0	0	1	0	0
KHDC1	80759	broad.mit.edu	37	6	73951907	73951907	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:73951907G>A	ENST00000423730.3	-	3	601	c.166C>T	c.(166-168)Cag>Tag	p.Q56*	KHDC1_ENST00000370384.3_Nonsense_Mutation_p.Q129*|KHDC1_ENST00000257765.5_Nonsense_Mutation_p.Q56*																							CTCTCCAGCTGAATAAGGGTG	0.547000													11	58					0	0	1	0	0
OSGEP	55644	broad.mit.edu	37	14	20916071	20916071	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:20916071C>A	ENST00000555656.1	-	4	2205	c.188G>T	c.(187-189)gGa>gTa	p.G63V	OSGEP_ENST00000206542.4_Missense_Mutation_p.G262V|OSGEP_ENST00000554249.1_Missense_Mutation_p.G80V			Q9NPF4	OSGEP_HUMAN	O-sialoglycoprotein endopeptidase	262					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		ACACCCCACTCCTCCCACAAT	0.473000													103	59					5.07675e-46	5.85426e-46	1	1	0
CCR5	1234	broad.mit.edu	37	3	46415295	46415295	+	Missense_Mutation	SNP	G	G	A	rs1800943		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:46415295G>A	ENST00000343801.4	+	3	1259	c.902G>A	c.(901-903)gGg>gAg	p.G301E	CCR5_ENST00000445772.1_Missense_Mutation_p.G301E|RP11-24F11.2_ENST00000451485.1_RNA|CCR5_ENST00000292303.4_Missense_Mutation_p.G301E	NM_000579.3	NP_000570.1	P51681	CCR5_HUMAN	chemokine (C-C motif) receptor 5 (gene/pseudogene)	301			G -> V (in dbSNP:rs1800943).		cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GCCTTTGTCGGGGAGAAGTTC	0.483000													293	290					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414379	20414379	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:20414379G>A	ENST00000380338.4	-	5	751	c.465C>T	c.(463-465)agC>agT	p.S155S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S152S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	155	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S155S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.532000			T	MLL	ALL								5	82					0	0	1	0	0
ICAM5	7087	broad.mit.edu	37	19	10405105	10405105	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:10405105C>A	ENST00000221980.4	+	9	2082	c.2019C>A	c.(2017-2019)tgC>tgA	p.C673*		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	673	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			AATCTACCTGCCCAAGTCACC	0.692000													61	34					2.14255e-21	2.37786e-21	1	1	0
ZBTB9	221504	broad.mit.edu	37	6	33424237	33424237	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:33424237C>G	ENST00000395064.2	+	2	1628	c.1360C>G	c.(1360-1362)Ctc>Gtc	p.L454V		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						TGCCTGTTTTCTCCGCCACCG	0.572000													65	54					0	0	1	0	0
PPP4R1	9989	broad.mit.edu	37	18	9553378	9553378	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:9553378G>A	ENST00000400556.3	-	16	2306	c.2233C>T	c.(2233-2235)Cag>Tag	p.Q745*	PPP4R1_ENST00000400555.3_Nonsense_Mutation_p.Q728*	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	745					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						AAAAACTCCTGAAGTTGATAA	0.328000													30	37					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65266296	65266296	+	RNA	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:65266296C>G	ENST00000534336.1	+	0	1064					NR_002819.2																						GTTTGCAGCTCAAATCTTTCC	0.333000													47	129					0	0	1	0	0
ACVR2A	92	broad.mit.edu	37	2	148676128	148676128	+	Missense_Mutation	SNP	T	T	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:148676128T>A	ENST00000241416.7	+	7	1565	c.929T>A	c.(928-930)cTa>cAa	p.L310Q	ACVR2A_ENST00000535787.1_Missense_Mutation_p.L202Q|ACVR2A_ENST00000404590.1_Missense_Mutation_p.L310Q	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	310	Protein kinase.				activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		ATACCTGGCCTAAAAGATGGC	0.378000													5	43					0	0	1	0	0
MAZ	4150	broad.mit.edu	37	16	29821553	29821553	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:29821553G>C	ENST00000563402.1	+	3	535	c.404G>C	c.(403-405)aGc>aCc	p.S135T	AC009133.20_ENST00000569039.1_RNA|MAZ_ENST00000562337.1_3'UTR|MAZ_ENST00000568282.1_3'UTR|MAZ_ENST00000322945.6_3'UTR|MAZ_ENST00000566906.2_Missense_Mutation_p.S133T|MAZ_ENST00000568544.1_3'UTR|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000545521.1_3'UTR|MAZ_ENST00000219782.6_3'UTR			P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)	20	Poly-Pro.				regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription|transcription initiation from RNA polymerase II promoter	nucleus	DNA binding|protein binding|RNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						ACCCTGGTGAGCTCCAAGTTG	0.622000													4	10					0	0	1	0	0
PDCD11	22984	broad.mit.edu	37	10	105202183	105202183	+	Missense_Mutation	SNP	G	G	A	rs140495953		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:105202183G>A	ENST00000369797.3	+	32	5015	c.4921G>A	c.(4921-4923)Gtg>Atg	p.V1641M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1641					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGCCCGTGCCGTGGCTGAGAG	0.587000													80	43					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								8	107					0	0	1	0	0
HERC2	8924	broad.mit.edu	37	15	28375401	28375401	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:28375401A>G	ENST00000261609.7	-	83	12818	c.12710T>C	c.(12709-12711)gTt>gCt	p.V4237A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4237					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGGCCTTCGAACATGGTCATC	0.552000													80	187					0	0	1	0	0
ATP1A2	477	broad.mit.edu	37	1	160094202	160094202	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:160094202C>G	ENST00000361216.3	+	6	701	c.612C>G	c.(610-612)atC>atG	p.I204M	ATP1A2_ENST00000392233.3_Missense_Mutation_p.I204M	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	204					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCGGATCATCTCTTCTCATG	0.567000													9	38					0	0	1	0	0
FLNC	2318	broad.mit.edu	37	7	128481267	128481267	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:128481267C>A	ENST00000325888.8	+	12	2118	c.1857C>A	c.(1855-1857)gaC>gaA	p.D619E	FLNC_ENST00000346177.6_Missense_Mutation_p.D619E	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	619					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGAATGTGACGACAAGGGGG	0.627000													15	191					2.48551e-13	2.67348e-13	1	1	0
HIPK3	10114	broad.mit.edu	37	11	33369461	33369461	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:33369461G>A	ENST00000303296.4	+	11	2513	c.2208G>A	c.(2206-2208)caG>caA	p.Q736Q	HIPK3_ENST00000525975.1_Silent_p.Q736Q|HIPK3_ENST00000456517.1_Silent_p.Q736Q|HIPK3_ENST00000379016.3_Silent_p.Q736Q	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	736					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGACCAATCAGATAACTTTAT	0.438000													39	90					0	0	1	0	0
PCNXL2	80003	broad.mit.edu	37	1	233134081	233134081	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:233134081C>G	ENST00000258229.9	-	32	5941	c.5707G>C	c.(5707-5709)Ggc>Cgc	p.G1903R	PCNXL2_ENST00000344698.2_Missense_Mutation_p.G555R	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TCCTGGCTGCCACCACTCGGG	0.637000													21	45					0	0	1	0	0
BACH2	60468	broad.mit.edu	37	6	90642597	90642597	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:90642597C>G	ENST00000257749.4	-	9	2763	c.2056G>C	c.(2056-2058)Gag>Cag	p.E686Q	BACH2_ENST00000537989.1_Missense_Mutation_p.E686Q|BACH2_ENST00000343122.3_Missense_Mutation_p.E686Q	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	686	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		AACAGTTTCTCTTTCTCACAC	0.473000													43	33					0	0	1	0	0
TNPO1	3842	broad.mit.edu	37	5	72192882	72192882	+	Splice_Site	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:72192882G>C	ENST00000337273.5	+	20	2668		c.e20-1		TNPO1_ENST00000506351.2_Splice_Site|TNPO1_ENST00000523768.1_Splice_Site|TNPO1_ENST00000454282.1_Splice_Site	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1						interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		ATGATCTCTAGGTATAGAGAT	0.343000													25	23					0	0	1	0	0
HIST1H2BI	8346	broad.mit.edu	37	6	26273579	26273579	+	Nonsense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:26273579A>T	ENST00000377733.2	+	1	436	c.376A>T	c.(376-378)Aag>Tag	p.K126*		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	126					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						CACCAGCTCCAAGTAAACTAG	0.537000													27	31					0	0	1	0	0
FAM161A	84140	broad.mit.edu	37	2	62067209	62067209	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:62067209C>T	ENST00000404929.1	-	3	941	c.930G>A	c.(928-930)ctG>ctA	p.L310L	FAM161A_ENST00000405894.3_Silent_p.L310L	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	310					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTTTCTCCTTCAGAGACCTTC	0.443000													62	268					0	0	1	0	0
PRAME	23532	broad.mit.edu	37	22	22892514	22892514	+	Missense_Mutation	SNP	A	A	G	rs140739353	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:22892514A>G	ENST00000543184.1	-	4	1449	c.587T>C	c.(586-588)aTt>aCt	p.I196T	PRAME_ENST00000405655.3_Missense_Mutation_p.I196T|PRAME_ENST00000398741.1_Missense_Mutation_p.I196T|PRAME_ENST00000539862.1_Missense_Mutation_p.I180T|PRAME_ENST00000424204.2_Missense_Mutation_p.I180T|PRAME_ENST00000402697.1_Missense_Mutation_p.I196T|PRAME_ENST00000398743.2_Missense_Mutation_p.I196T	NM_206953.1	NP_996836.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	196					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.I196T(1)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CACTTTCTCAATGAGGTAGGA	0.458000													57	85					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47538788	47538788	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:47538788A>G	ENST00000273859.3	+	9	1498	c.1229A>G	c.(1228-1230)tAc>tGc	p.Y410C	ATP10D_ENST00000504445.1_Missense_Mutation_p.Y395C	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	410					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GTGGATTTCTACAATGAAAAA	0.398000													14	16					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	114327003	114327003	+	Silent	SNP	A	A	T	rs148820468		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:114327003A>T	ENST00000297405.5	-	2	442	c.198T>A	c.(196-198)ggT>ggA	p.G66G	CSMD3_ENST00000343508.3_Silent_p.G26G|CSMD3_ENST00000352409.3_Silent_p.G66G|CSMD3_ENST00000455883.2_Silent_p.G66G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	66	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTAAAGTTCCACCACATGTAT	0.313000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			29	63					0	0	1	0	0
LRRTM1	347730	broad.mit.edu	37	2	80529551	80529551	+	Missense_Mutation	SNP	A	A	C	rs148119501	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:80529551A>C	ENST00000295057.3	-	2	2050	c.1394T>G	c.(1393-1395)gTc>gGc	p.V465G	CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.V465G|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	465						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						GCGCTGCGTGACAAAGCACTG	0.532000										HNSCC(69;0.2)			20	126					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271701	65271701	+	RNA	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:65271701G>A	ENST00000534336.1	+	0	6469					NR_002819.2																						ACCTTGCAGTGAGTTTATCAG	0.413000													10	24					0	0	1	0	0
FLNA	2316	broad.mit.edu	37	X	153588566	153588566	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:153588566C>T	ENST00000422373.1	-	22	3845	c.3597G>A	c.(3595-3597)tcG>tcA	p.S1199S	FLNA_ENST00000344736.4_Silent_p.S1199S|FLNA_ENST00000360319.4_Silent_p.S1199S|FLNA_ENST00000369850.3_Silent_p.S1199S	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1199			S -> L (in MNS; does not inhibit interaction with MIS18BP1; dbSNP:rs28935473).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(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)					GCCCCGCCTCCGAGCAGATCT	0.677000													14	40					0	0	1	0	0
FKBP7	51661	broad.mit.edu	37	2	179343041	179343041	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:179343041G>T	ENST00000424785.2	-	1	244	c.186C>A	c.(184-186)ggC>ggA	p.G62G	FKBP7_ENST00000434643.2_Silent_p.G62G|FKBP7_ENST00000464248.1_5'UTR	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	62	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TAGCCAGGTAGCCGTCATAAT	0.498000													33	108					1.99505e-19	2.19513e-19	1	1	0
RP11-252A24.2	0	broad.mit.edu	37	16	74372643	74372643	+	RNA	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:74372643C>G	ENST00000429810.2	-	0	1553																											TTACCCTTGTCAGGGGGAACA	0.443000													23	20					0	0	1	0	0
SAMD3	154075	broad.mit.edu	37	6	130535635	130535635	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:130535635T>C	ENST00000532763.1	-	3	245	c.116A>G	c.(115-117)aAt>aGt	p.N39S	SAMD3_ENST00000437477.2_Missense_Mutation_p.N39S|SAMD3_ENST00000457563.2_Missense_Mutation_p.N63S|SAMD3_ENST00000368134.2_Missense_Mutation_p.N39S|SAMD3_ENST00000439090.2_Missense_Mutation_p.N39S|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000324172.6_Missense_Mutation_p.N39S			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	39	SAM.							p.N39S(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		CATCCGATCATTAAGTGCAAG	0.408000													60	58					0	0	1	0	0
SNED1	25992	broad.mit.edu	37	2	242027796	242027796	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:242027796C>G	ENST00000310397.8	+	31	4222	c.4222C>G	c.(4222-4224)Cag>Gag	p.Q1408E	MTERFD2_ENST00000464344.2_Intron|SNED1_ENST00000342631.6_Missense_Mutation_p.Q1375E|SNED1_ENST00000405547.3_Missense_Mutation_p.Q1347E	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1408					cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AAGTAAGAGTCAGACACTGGA	0.512000													5	92					0	0	1	0	0
ADAMTS6	11174	broad.mit.edu	37	5	64629868	64629868	+	Splice_Site	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:64629868C>A	ENST00000536360.1	-	8	1931		c.e8+1					Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		aaaaaaCTTACCCAGTGTTCC	0.254000													6	12					0.00198382	0.00202603	1	1	0
OR2T4	127074	broad.mit.edu	37	1	248525926	248525926	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:248525926G>A	ENST00000366475.1	+	1	1044	c.1044G>A	c.(1042-1044)gaG>gaA	p.E348E		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	348					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGCTATGGAGTAGACCATTT	0.403000													158	6					0	0	1	0	0
PPARG	5468	broad.mit.edu	37	3	12447409	12447409	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:12447409C>A	ENST00000397026.2	+	7	965	c.582C>A	c.(580-582)gcC>gcA	p.A194A	PPARG_ENST00000309576.6_Silent_p.A188A|PPARG_ENST00000397012.2_Silent_p.A188A|PPARG_ENST00000539812.1_Silent_p.A186A|PPARG_ENST00000287820.6_Silent_p.A216A|PPARG_ENST00000397000.1_Silent_p.A188A|PPARG_ENST00000397010.2_Silent_p.A188A|PPARG_ENST00000397015.2_Silent_p.A188A			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	216					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TGCCACAGGCCGAGAAGGAGA	0.517000			T	PAX8	follicular thyroid		"""Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"""						22	120					2.98393e-07	3.12215e-07	1	1	0
TMEM132B	114795	broad.mit.edu	37	12	126138414	126138414	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:126138414G>A	ENST00000299308.3	+	9	2403	c.2395G>A	c.(2395-2397)Ggc>Agc	p.G799S	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G311S	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	799						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCACCAAGGAGGCAGCAATGA	0.458000													31	73					0	0	1	0	0
ZNF614	80110	broad.mit.edu	37	19	52519431	52519431	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:52519431C>T	ENST00000270649.6	-	5	1964	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGACATCTCTCATGTTGTATG	0.408000													27	291					0	0	1	0	0
CNTNAP5	129684	broad.mit.edu	37	2	125192129	125192129	+	Missense_Mutation	SNP	A	A	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:125192129A>T	ENST00000431078.1	+	5	962	c.598A>T	c.(598-600)Act>Tct	p.T200S		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	200	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GTTGATGAGTACTCTCAAAGA	0.468000													22	77					0	0	1	0	0
IMPG2	50939	broad.mit.edu	37	3	100962599	100962599	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:100962599T>C	ENST00000193391.7	-	13	2763	c.2576A>G	c.(2575-2577)aAt>aGt	p.N859S		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	859					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AACCTTGCCATTTTGCTCTTG	0.448000													51	90					0	0	1	0	0
MTCH2	23788	broad.mit.edu	37	11	47653256	47653256	+	Missense_Mutation	SNP	C	C	G	rs144753500	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:47653256C>G	ENST00000302503.3	-	6	534	c.377G>C	c.(376-378)cGa>cCa	p.R126P	MTCH2_ENST00000542981.1_Intron	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	126					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GATCATCTCTCGAGTTGTCTA	0.423000													22	71					0	0	1	0	0
BMPR2	659	broad.mit.edu	37	2	203420682	203420682	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:203420682C>T	ENST00000374580.4	+	12	2833	c.2294C>T	c.(2293-2295)tCa>tTa	p.S765L	BMPR2_ENST00000374574.2_Intron	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	765					anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ACCAAAAATTCAACAAAAGAG	0.428000													23	80					0	0	1	0	0
MYO1D	4642	broad.mit.edu	37	17	31203816	31203816	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:31203816G>A	ENST00000318217.5	-	1	379	c.75C>T	c.(73-75)ttC>ttT	p.F25F	AC084809.2_ENST00000435733.1_RNA|MYO1D_ENST00000583621.1_Silent_p.F25F|MYO1D_ENST00000579584.1_Silent_p.F25F	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	25	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GGTTGGCCATGAACTCGGGCA	0.721000													3	3					0	0	1	0	0
ACAP3	116983	broad.mit.edu	37	1	1233212	1233212	+	Missense_Mutation	SNP	C	C	G	rs146361230		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:1233212C>G	ENST00000354700.5	-	14	1320	c.1118G>C	c.(1117-1119)tGc>tCc	p.C373S	ACAP3_ENST00000379037.2_5'UTR|ACAP3_ENST00000353662.3_Missense_Mutation_p.C331S	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	373					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CTCGCTATAGCAACTGTCAGG	0.682000													34	18					0	0	1	0	0
CDK4	1019	broad.mit.edu	37	12	58143281	58143281	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:58143281G>A	ENST00000312990.6	-	5	463	c.287C>T	c.(286-288)tCt>tTt	p.S96F	CDK4_ENST00000257904.6_Silent_p.L213L|CDK4_ENST00000540325.1_Silent_p.L93L|CDK4_ENST00000549606.1_5'UTR|CDK4_ENST00000551888.1_5'UTR|TSPAN31_ENST00000547992.1_3'UTR			P11802	CDK4_HUMAN	cyclin-dependent kinase 4	0	Protein kinase.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			TTCCACAGAAGAGAGGCCTAA	0.408000			Mis			melanoma			Hereditary Melanoma				13	39					0	0	1	0	0
C7orf33	202865	broad.mit.edu	37	7	148288208	148288208	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:148288208C>A	ENST00000307003.2	+	1	552	c.191C>A	c.(190-192)aCg>aAg	p.T64K		NM_145304.2	NP_660347.1	Q8WU49	CG033_HUMAN	chromosome 7 open reading frame 33	64								p.T64M(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TCATATGCCACGGGAAGACAT	0.473000													101	27					5.77035e-48	6.67413e-48	1	1	0
TSHZ3	57616	broad.mit.edu	37	19	31768032	31768032	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:31768032C>T	ENST00000240587.4	-	2	2994	c.2667G>A	c.(2665-2667)caG>caA	p.Q889Q		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	889					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CCTTCCTCTTCTGGGCGGGCG	0.612000													51	50					0	0	1	0	0
PLEKHM1P	440456	broad.mit.edu	37	17	62820965	62820965	+	RNA	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:62820965G>A	ENST00000582986.1	-	0	188					NR_024386.1																						GGCTTTCACGGATCCCACCAG	0.517000													16	103					0	0	1	0	0
NEK6	10783	broad.mit.edu	37	9	127113225	127113225	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:127113225G>A	ENST00000373600.3	+	11	1258	c.1043G>A	c.(1042-1044)tGa>tAa	p.*348*	NEK6_ENST00000373603.1_Silent_p.*314*|NEK6_ENST00000394199.2_Silent_p.*348*|NEK6_ENST00000545174.1_Silent_p.*314*|NEK6_ENST00000320246.5_Silent_p.*314*|NEK6_ENST00000539416.1_Silent_p.*339*|NEK6_ENST00000540326.1_Silent_p.*332*|NEK6_ENST00000546191.1_Silent_p.*314*	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	0					apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						TCCAGCACCTGAGCGTGGATG	0.562000													25	41					0	0	1	0	0
SRRT	51593	broad.mit.edu	37	7	100485476	100485476	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:100485476C>T	ENST00000388793.4	+	17	2539	c.2319C>T	c.(2317-2319)gcC>gcT	p.A773A	SRRT_ENST00000347433.4_Silent_p.A774A|SRRT_ENST00000432932.1_Silent_p.A773A|SRRT_ENST00000457580.2_Silent_p.A774A	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	774	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CTGGCCCCGCCCAGAGTAAGA	0.532000													5	150					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330209	51330209	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:51330209C>T	ENST00000326856.4	-	4	532	c.403G>A	c.(403-405)Gag>Aag	p.E135K	KLK15_ENST00000596931.1_Missense_Mutation_p.E135K|KLK15_ENST00000598239.1_Missense_Mutation_p.E136K|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000301421.2_Missense_Mutation_p.E136K	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	136	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACACAGGCCTCCCCCGGGTGG	0.692000													16	97					0	0	1	0	0
MYO3B	140469	broad.mit.edu	37	2	171259362	171259362	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:171259362G>T	ENST00000334231.6	+	19	2161	c.2161G>T	c.(2161-2163)Gca>Tca	p.A721S	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000408978.4_Missense_Mutation_p.A712S|MYO3B_ENST00000409044.3_Missense_Mutation_p.A712S			Q8WXR4	MYO3B_HUMAN	myosin IIIB	712	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						ATGCAGTAGTGCAGGAGGTGG	0.428000													21	107					4.54149e-19	4.98266e-19	1	1	0
RYR1	6261	broad.mit.edu	37	19	38945908	38945908	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:38945908C>T	ENST00000355481.4	+	14	1605	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	RYR1_ENST00000360985.3_Missense_Mutation_p.R492C|RYR1_ENST00000359596.3_Missense_Mutation_p.R492C	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	492					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TTGCATAGACCGCCTAAATGT	0.507000													65	105					0	0	1	0	0
ATG9A	79065	broad.mit.edu	37	2	220089301	220089301	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:220089301G>C	ENST00000409618.1	-	8	1231	c.792C>G	c.(790-792)ctC>ctG	p.L264L	ATG9A_ENST00000361242.4_Silent_p.L264L|ATG9A_ENST00000409422.1_Silent_p.L203L|ATG9A_ENST00000396761.2_Silent_p.L264L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	264					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCATTCATTGAGAAACAGAG	0.582000													15	42					0	0	1	0	0
ZC3H10	84872	broad.mit.edu	37	12	56515127	56515127	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:56515127C>T	ENST00000257940.2	+	3	1057	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	261							nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			GGTCAGCAACCTGCTGGCCAC	0.552000													36	78					0	0	1	0	0
TRIP11	9321	broad.mit.edu	37	14	92506013	92506013	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:92506013C>G	ENST00000267622.4	-	1	390	c.17G>C	c.(16-18)gGg>gCg	p.G6A	TRIP11_ENST00000555105.1_5'UTR	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	6					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	p.G6E(1)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GCCGAGGCCCCCAAGCCAGGA	0.577000			T	PDGFRB	AML								4	9					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091840	29091840	+	Missense_Mutation	SNP	T	T	C	rs142470496	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:29091840T>C	ENST00000544772.1	-	12	1890	c.454A>G	c.(454-456)Aag>Gag	p.K152E	CHEK2_ENST00000402731.1_Missense_Mutation_p.K344E|CHEK2_ENST00000403642.1_Missense_Mutation_p.K282E|CHEK2_ENST00000405598.1_Missense_Mutation_p.K373E|CHEK2_ENST00000328354.6_Missense_Mutation_p.K373E|CHEK2_ENST00000382580.2_Missense_Mutation_p.K416E|CHEK2_ENST00000348295.3_Missense_Mutation_p.K344E|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Missense_Mutation_p.K373E|CHEK2_ENST00000382578.1_Missense_Mutation_p.K282E	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	373	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.K373E(9)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCCAAAATCTTGGAGTGCCCA	0.418000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					5	56					0	0	1	0	0
LPHN3	23284	broad.mit.edu	37	4	62800707	62800707	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:62800707G>A	ENST00000512091.2	+	13	2805	c.2058G>A	c.(2056-2058)aaG>aaA	p.K686K	LPHN3_ENST00000509896.1_Silent_p.K754K|LPHN3_ENST00000506746.1_Silent_p.K754K|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000545650.1_Silent_p.K686K|LPHN3_ENST00000508946.1_Silent_p.K686K|LPHN3_ENST00000514157.1_Silent_p.K686K|LPHN3_ENST00000508693.1_Silent_p.K754K|LPHN3_ENST00000507625.1_Silent_p.K754K|LPHN3_ENST00000507164.1_Silent_p.K754K|LPHN3_ENST00000506700.1_Silent_p.K686K|LPHN3_ENST00000514591.1_Silent_p.K686K|LPHN3_ENST00000511324.1_Silent_p.K754K|LPHN3_ENST00000504896.1_Silent_p.K686K|LPHN3_ENST00000506720.1_Silent_p.K754K|LPHN3_ENST00000514996.1_Silent_p.K686K			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACCTTTTGAAGACTGACATTG	0.438000													15	24					0	0	1	0	0
CNOT11	55571	broad.mit.edu	37	2	101869621	101869621	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:101869621G>A	ENST00000289382.3	+	1	358	c.195G>A	c.(193-195)ccG>ccA	p.P65P		NM_017546.4	NP_060016.3			CCR4-NOT transcription complex, subunit 11																		GCTTGACCCCGAAGGAGCTCT	0.731000													7	25					0	0	1	0	0
RRN3P2	653390	broad.mit.edu	37	16	29107554	29107554	+	RNA	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:29107554T>C	ENST00000564580.1	+	0	946																											TGGAAGCTTTTTGGCAAGAGC	0.363000													47	32					0	0	1	0	0
ZNF512	84450	broad.mit.edu	37	2	27825413	27825413	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:27825413C>G	ENST00000355467.4	+	8	836	c.753C>G	c.(751-753)ctC>ctG	p.L251L	RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.L250L|ZNF512_ENST00000416005.2_Silent_p.L222L|ZNF512_ENST00000556601.1_Silent_p.L120L|ZNF512_ENST00000413371.2_Silent_p.L174L	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	251					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					TGGGAAAGCTCAGGTGCATGC	0.463000													7	54					0	0	1	0	0
MAP4K5	11183	broad.mit.edu	37	14	50910669	50910669	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:50910669T>G	ENST00000013125.4	-	19	1743	c.1425A>C	c.(1423-1425)aaA>aaC	p.K475N		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	475					activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					GGAAGTCTCGTTTGTCCTTTT	0.353000													6	7					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28884845	28884845	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:28884845C>G	ENST00000375664.4	+	7	1268	c.659C>G	c.(658-660)tCt>tGt	p.S220C	WAC_ENST00000354911.4_Missense_Mutation_p.S265C|WAC_ENST00000347934.4_Intron|WAC_ENST00000428935.1_Missense_Mutation_p.S220C|WAC_ENST00000375646.1_Intron			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ACTGTTCCTTCTAGTCCATTT	0.463000													49	127					0	0	1	0	0
GPR98	84059	broad.mit.edu	37	5	90055402	90055402	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:90055402G>A	ENST00000405460.2	+	58	12213	c.12117G>A	c.(12115-12117)aaG>aaA	p.K4039K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4039					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAAGAAAAGACTGTAAGTT	0.383000													4	8					0	0	1	0	0
C12orf56	115749	broad.mit.edu	37	12	64679744	64679744	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:64679744C>T	ENST00000543942.2	-	7	1836	c.1210G>A	c.(1210-1212)Gat>Aat	p.D404N	C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA|C12orf56_ENST00000333722.5_Missense_Mutation_p.D244N	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	407										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ACCAGCTCATCAACCCTTTGG	0.363000													8	13					0	0	1	0	0
PCDHB3	56132	broad.mit.edu	37	5	140481673	140481673	+	Silent	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:140481673A>G	ENST00000231130.2	+	1	1440	c.1440A>G	c.(1438-1440)tcA>tcG	p.S480S	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		480	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAGAGACTCAGGCACCAACG	0.647000													69	105					0	0	1	0	0
GSX2	170825	broad.mit.edu	37	4	54968033	54968033	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:54968033G>A	ENST00000326902.2	+	2	1173	c.859G>A	c.(859-861)Gag>Aag	p.E287K	GSX2_ENST00000548609.1_3'UTR|GSX2_ENST00000503800.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_133267.2	NP_573574.1	Q9BZM3	GSX2_HUMAN	GS homeobox 2	287						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(2)|lung(2)	6	all_cancers(7;0.00671)|Lung NSC(11;0.0154)|all_neural(26;0.0209)|Glioma(25;0.08)|all_epithelial(27;0.147)		LUSC - Lung squamous cell carcinoma(32;0.00216)			CTCCGAGGATGAGGACTCCCT	0.647000													29	20					0	0	1	0	0
ZNF710	374655	broad.mit.edu	37	15	90617419	90617419	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:90617419C>T	ENST00000268154.4	+	4	1973	c.1722C>T	c.(1720-1722)ccC>ccT	p.P574P		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCAGCAAGCCCTTCAAGTGCC	0.587000													49	29					0	0	1	0	0
MAP3K6	9064	broad.mit.edu	37	1	27683085	27683085	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:27683085C>G	ENST00000374040.3	-	24	3756	c.3496G>C	c.(3496-3498)Gat>Cat	p.D1166H	MAP3K6_ENST00000357582.2_Missense_Mutation_p.D1174H|MAP3K6_ENST00000493901.1_Missense_Mutation_p.D1174H			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1174					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTTACCGATCAGTCTCTGCC	0.647000													9	53					0	0	1	0	0
PRPH	5630	broad.mit.edu	37	12	49691240	49691240	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:49691240G>C	ENST00000257860.4	+	6	2596	c.1097G>C	c.(1096-1098)cGa>cCa	p.R366P	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	366	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GAGGAGCTGCGACAGCTAAAA	0.652000											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	10	16					0	0	1	0	0
TAF1L	138474	broad.mit.edu	37	9	32634258	32634258	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:32634258G>C	ENST00000242310.4	-	1	1409	c.1320C>G	c.(1318-1320)atC>atG	p.I440M	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	440					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CTTTGTGTTTGATATCCTCCC	0.468000													213	143					0	0	1	0	0
DMRT2	10655	broad.mit.edu	37	9	1056399	1056399	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:1056399C>G	ENST00000382251.3	+	5	1141	c.812C>G	c.(811-813)cCc>cGc	p.P271R	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000358146.2_Missense_Mutation_p.P271R|DMRT2_ENST00000302441.6_Missense_Mutation_p.P271R|DMRT2_ENST00000259622.6_3'UTR			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	271					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CTGTTTCTGCCCAACCGCATG	0.473000													21	154					0	0	1	0	0
KRT85	3891	broad.mit.edu	37	12	52758102	52758102	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:52758102G>A	ENST00000257901.3	-	3	753	c.678C>T	c.(676-678)gtC>gtT	p.V226V	KRT85_ENST00000544265.1_Intron	NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	226	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCTTTAGAACGACAAACTCAT	0.572000													55	42					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119456227	119456227	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:119456227G>A	ENST00000273390.5	+	11	1436	c.1359G>A	c.(1357-1359)aaG>aaA	p.K453K		NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1																		TGTTGGATAAGAAGAATAAAG	0.348000													20	69					0	0	1	0	0
FLNB	2317	broad.mit.edu	37	3	58095302	58095302	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:58095302G>A	ENST00000357272.4	+	15	2364		c.e15-1		FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000419752.2_Splice_Site			O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTCTTCTCTAGGTCAACATCG	0.458000													74	90					0	0	1	0	0
KIF1B	23095	broad.mit.edu	37	1	10364096	10364096	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:10364096C>G	ENST00000377093.4	+	21	3006	c.2853C>G	c.(2851-2853)atC>atG	p.I951M	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.I951M	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.I951I(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ATAGGTTCATCCCTCCTGAGA	0.488000													112	66					0	0	1	0	0
TBC1D16	125058	broad.mit.edu	37	17	77922709	77922709	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:77922709G>T	ENST00000310924.2	-	8	1618	c.1503C>A	c.(1501-1503)ttC>ttA	p.F501L	TBC1D16_ENST00000340848.7_Missense_Mutation_p.F139L|TBC1D16_ENST00000572862.1_Missense_Mutation_p.F139L|TBC1D16_ENST00000570373.1_Missense_Mutation_p.F140L|TBC1D16_ENST00000576768.1_Missense_Mutation_p.F126L	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	501	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCCCCCGGAAGAACTGGTTGT	0.572000													102	148					4.24508e-63	4.96985e-63	1	1	0
C19orf55	148137	broad.mit.edu	37	19	36256029	36256029	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:36256029G>A	ENST00000544099.1	+	7	784	c.721G>A	c.(721-723)Gag>Aag	p.E241K	C19orf55_ENST00000396908.4_Missense_Mutation_p.E241K			Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	241	Ser-rich.									cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCCTTCTCGGAGACCTTCAT	0.622000													16	222					0	0	1	0	0
SLC6A10P	386757	broad.mit.edu	37	16	32891893	32891893	+	RNA	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:32891893A>C	ENST00000330048.5	-	0	2830					NR_003083.2																						AGCTGGTCCCACTGTTGATGA	0.627000													30	24					0	0	1	0	0
HCFC1	3054	broad.mit.edu	37	X	153236183	153236183	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:153236183G>A	ENST00000310441.7	-	1	1075	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C	HCFC1_ENST00000354233.3_Missense_Mutation_p.R37C|HCFC1_ENST00000369984.4_Missense_Mutation_p.R37C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	37					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R37C(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCACGGCGCGGTGGCCGTGG	0.682000													13	4					0	0	1	0	0
PINK1	65018	broad.mit.edu	37	1	20972086	20972086	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:20972086G>A	ENST00000321556.4	+	5	1087	c.993G>A	c.(991-993)gtG>gtA	p.V331V	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	331	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ACCTTTGTGTGAACACACCCA	0.577000													24	54					0	0	1	0	0
PCSK6	5046	broad.mit.edu	37	15	101938609	101938609	+	Splice_Site	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:101938609C>T	ENST00000348070.1	-	8	992	c.993G>A	c.(991-993)aaG>aaA	p.K331K	PCSK6_ENST00000344273.2_Splice_Site_p.K331K|PCSK6_ENST00000331826.7_Splice_Site_p.K166K|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Splice_Site_p.K331K|PCSK6_ENST00000358417.3_Splice_Site_p.K331K	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	332	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTACTCACACCTTTTTAATGC	0.557000													57	147					0	0	1	0	0
DNER	92737	broad.mit.edu	37	2	230377518	230377518	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:230377518G>A	ENST00000341772.4	-	6	1262	c.1128C>T	c.(1126-1128)ttC>ttT	p.F376F		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	376	EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		AAACACAGGTGAAATTGCTCC	0.413000													89	72					0	0	1	0	0
AMFR	267	broad.mit.edu	37	16	56436917	56436917	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:56436917C>T	ENST00000290649.5	-	7	1164	c.954G>A	c.(952-954)gtG>gtA	p.V318V		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	318					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TGTTTCCAACCACACGTAGAT	0.443000													69	99					0	0	1	0	0
KLK15	55554	broad.mit.edu	37	19	51330397	51330397	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:51330397C>T	ENST00000326856.4	-	4	344	c.215G>A	c.(214-216)gGa>gAa	p.G72E	KLK15_ENST00000596931.1_Missense_Mutation_p.G72E|KLK15_ENST00000598239.1_Missense_Mutation_p.G73E|KLK15_ENST00000416184.1_Missense_Mutation_p.G73E|KLK15_ENST00000301421.2_Missense_Mutation_p.G73E	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	73	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		GTTGTGCTCTCCCAGGCGCAC	0.622000													20	120					0	0	1	0	0
BMS1P20	96610	broad.mit.edu	37	22	22664056	22664056	+	RNA	SNP	T	T	C	rs3178309		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:22664056T>C	ENST00000426066.1	+	0	623					NR_027293.1																						ATAAAGTATATGATTTTGTGT	0.348000													4	29					0	0	1	0	0
TPTE	7179	broad.mit.edu	37	21	10942758	10942758	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr21:10942758C>T	ENST00000298232.7	-	12	996	c.629G>A	c.(628-630)aGg>aAg	p.R210K	TPTE_ENST00000361285.4_Missense_Mutation_p.R228K|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.R190K	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	228					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTGTATCGCCTTTTGTTTTC	0.328000													90	510					0	0	1	0	0
ZNF653	115950	broad.mit.edu	37	19	11597944	11597944	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:11597944C>T	ENST00000293771.5	-	5	1337	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TCCTTCTCCTCCTTCTTTAGC	0.647000													51	84					0	0	1	0	0
B3GALT6	126792	broad.mit.edu	37	1	1168307	1168307	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:1168307G>T	ENST00000379198.2	+	1	679	c.649G>T	c.(649-651)Ggc>Tgc	p.G217C		NM_080605.3	NP_542172.2	Q96L58	B3GT6_HUMAN	UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6	217					glycosaminoglycan biosynthetic process|protein glycosylation	Golgi cisterna membrane|Golgi medial cisterna|integral to membrane	galactosylxylosylprotein 3-beta-galactosyltransferase activity			lung(3)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GCTGGGCGGCGGCTACGTGCT	0.736000													4	8					0.00909568	0.00919142	1	1	0
SSU72	29101	broad.mit.edu	37	1	1479272	1479272	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:1479272G>A	ENST00000291386.3	-	4	771	c.460C>T	c.(460-462)Ctc>Ttc	p.L154F		NM_014188.2	NP_054907.1	Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	154					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TCACAGATGAGAAACGCCCCC	0.607000													36	101					0	0	1	0	0
PTHLH	5744	broad.mit.edu	37	12	28116576	28116576	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:28116576C>G	ENST00000535992.1	-	3	575	c.229G>C	c.(229-231)Gag>Cag	p.E77Q	PTHLH_ENST00000538310.1_Missense_Mutation_p.E77Q|PTHLH_ENST00000354417.3_Missense_Mutation_p.E77Q|PTHLH_ENST00000395868.3_Missense_Mutation_p.E77Q|PTHLH_ENST00000395872.1_Missense_Mutation_p.E77Q|PTHLH_ENST00000539239.1_Missense_Mutation_p.E77Q|RP11-993B23.3_ENST00000538113.1_RNA|PTHLH_ENST00000201015.4_Missense_Mutation_p.E77Q|PTHLH_ENST00000545234.1_Missense_Mutation_p.E77Q			P12272	PTHR_HUMAN	parathyroid hormone-like hormone	77					activation of adenylate cyclase activity by G-protein signaling pathway|cAMP metabolic process|cell-cell signaling|epidermis development|female pregnancy|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation	cytoplasm|extracellular space|nucleus	hormone activity|peptide hormone receptor binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|stomach(1)	10	Lung SC(9;0.184)					GGGGACACCTCCGAGGTAGCT	0.507000													34	299					0	0	1	0	0
UBASH3A	53347	broad.mit.edu	37	21	43867194	43867194	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr21:43867194G>T	ENST00000319294.6	+	15	1907	c.1876G>T	c.(1876-1878)Gaa>Taa	p.E626*	UBASH3A_ENST00000291535.6_Nonsense_Mutation_p.E588*|UBASH3A_ENST00000398367.1_Silent_p.V515V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	626	Phosphatase-like.					cytosol|nucleus		p.E626K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						GTGCTTCTGTGAAGAAAATAA	0.463000													69	167					1.02487e-32	1.16435e-32	1	1	0
PLVAP	83483	broad.mit.edu	37	19	17487748	17487748	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:17487748C>T	ENST00000252590.4	-	1	411	c.350G>A	c.(349-351)cGc>cAc	p.R117H		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	117						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGCACTGGCGGAAGCTGGC	0.617000													19	37					0	0	1	0	0
LOC440040	440040	broad.mit.edu	37	11	49831400	49831400	+	RNA	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:49831400T>C	ENST00000527477.1	+	0	1625																											CCCATATCACTGCAACACCTA	0.453000													12	49					0	0	1	0	0
ZNF516	9658	broad.mit.edu	37	18	74154543	74154543	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:74154543G>T	ENST00000443185.2	-	3	785	c.468C>A	c.(466-468)agC>agA	p.S156R	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CCCCCTTCTTGCTGCTCCGCA	0.701000													4	4					0.00024832	0.000255643	1	1	0
GMDS	2762	broad.mit.edu	37	6	1624454	1624454	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:1624454C>T	ENST00000380815.4	-	11	1338	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	GMDS_ENST00000530927.1_Missense_Mutation_p.E327K|GMDS_ENST00000467288.2_5'UTR	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	357					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TGCACCATCTCCCTCACCAGC	0.677000													17	15					0	0	1	0	0
FAM84B	157638	broad.mit.edu	37	8	127569335	127569335	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:127569335G>C	ENST00000304916.3	-	2	755	c.300C>G	c.(298-300)ggC>ggG	p.G100G	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	100						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			GCGCCGCCGAGCCCGGCGCGA	0.657000													48	21					0	0	1	0	0
CHEK2	11200	broad.mit.edu	37	22	29091841	29091841	+	Silent	SNP	G	G	A	rs146546850	byFrequency	TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:29091841G>A	ENST00000544772.1	-	12	1889	c.453C>T	c.(451-453)tcC>tcT	p.S151S	CHEK2_ENST00000402731.1_Silent_p.S343S|CHEK2_ENST00000403642.1_Silent_p.S281S|CHEK2_ENST00000405598.1_Silent_p.S372S|CHEK2_ENST00000328354.6_Silent_p.S372S|CHEK2_ENST00000382580.2_Silent_p.S415S|CHEK2_ENST00000348295.3_Silent_p.S343S|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000404276.1_Silent_p.S372S|CHEK2_ENST00000382578.1_Silent_p.S281S	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	372	FHA.				cell cycle|DNA damage checkpoint|DNA damage response, signal transduction resulting in induction of apoptosis|replicative senescence	PML body	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S372S(8)		central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						CCAAAATCTTGGAGTGCCCAA	0.413000			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					4	59					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													4	65					0	0	1	0	0
NTF4	4909	broad.mit.edu	37	19	49564969	49564969	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:49564969C>T	ENST00000301411.3	-	2	426	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	NTF4_ENST00000451356.2_Intron|NTF4_ENST00000593537.1_Missense_Mutation_p.V96M	NM_006179.4	NP_006170.1	P34130	NTF4_HUMAN	neurotrophin 4	96					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCATCGCACACAGCCAGCTCA	0.701000													38	34					0	0	1	0	0
COIL	8161	broad.mit.edu	37	17	55027348	55027348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:55027348G>A	ENST00000240316.4	-	2	1289	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	419	2 X 4 AA repeats of S-L-P-A.|4 X 2 AA tandem repeats of R-G.					Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					GGATGCCCTCGTCCTCGACCT	0.478000													54	111					0	0	1	0	0
IRF9	10379	broad.mit.edu	37	14	24631433	24631433	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:24631433G>A	ENST00000396864.3	+	2	367	c.80G>A	c.(79-81)gGa>gAa	p.G27E	RP11-468E2.4_ENST00000558468.1_3'UTR|IRF9_ENST00000557894.1_Intron	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	27					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CAGTTTCCCGGAGTGTGCTGG	0.577000													63	76					0	0	1	0	0
ZNF568	374900	broad.mit.edu	37	19	37441380	37441380	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:37441380C>G	ENST00000415168.1	+	5	1509	c.1133C>G	c.(1132-1134)gCt>gGt	p.A378G	ZNF568_ENST00000333987.7_Missense_Mutation_p.A442G|ZNF568_ENST00000455427.2_Intron|ZNF568_ENST00000427117.1_Intron	NM_001204837.1	NP_001191766.1	Q3ZCX4	ZN568_HUMAN	zinc finger protein 568	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(9)|ovary(1)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATCATACAGCTGAGAAACCC	0.403000													5	183					0	0	1	0	0
SCN1A	6323	broad.mit.edu	37	2	166850696	166850696	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:166850696C>T	ENST00000423058.2	-	25	4829	c.4812G>A	c.(4810-4812)tgG>tgA	p.W1604*	SCN1A_ENST00000375405.3_Nonsense_Mutation_p.W1593*|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.W1576*|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000303395.4_Nonsense_Mutation_p.W1604*|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1604						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	CAAAAATATTCCATCCAATGG	0.323000													13	34					0	0	1	0	0
NEB	4703	broad.mit.edu	37	2	152468823	152468823	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:152468823C>G	ENST00000397345.3	-	78	11884	c.11682G>C	c.(11680-11682)aaG>aaC	p.K3894N	NEB_ENST00000172853.10_Missense_Mutation_p.K3651N|NEB_ENST00000604864.1_Missense_Mutation_p.K3894N|NEB_ENST00000427231.2_Missense_Mutation_p.K3894N|NEB_ENST00000603639.1_Missense_Mutation_p.K3894N|NEB_ENST00000409198.1_Missense_Mutation_p.K3651N	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	3894					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCCAGCTCTCTTCACTTTCT	0.458000													37	21					0	0	1	0	0
DUOXA2	405753	broad.mit.edu	37	15	45408927	45408927	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:45408927G>A	ENST00000323030.5	+	4	839	c.554G>A	c.(553-555)tGg>tAg	p.W185*		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	185					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		GCCACGCTATGGTAAGTGCTG	0.642000													19	25					0	0	1	0	0
SMOC2	64094	broad.mit.edu	37	6	169064760	169064760	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:169064760G>A	ENST00000354536.5	+	12	1545	c.1325G>A	c.(1324-1326)aGa>aAa	p.R442K	SMOC2_ENST00000356284.2_Missense_Mutation_p.R431K|SMOC2_ENST00000477998.1_3'UTR	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	431					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CTAGCCCCCAGAGGTCATGCT	0.299000													10	73					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43816951	43816951	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43816951C>T	ENST00000382031.1	+	5	4025	c.3994C>T	c.(3994-3996)Cag>Tag	p.Q1332*	MAP1A_ENST00000300231.5_Nonsense_Mutation_p.Q1094*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.Q1094*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1094						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GTTGCCAGCACAGGATAAAGC	0.542000													6	161					0	0	1	0	0
ANK3	288	broad.mit.edu	37	10	61830970	61830970	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:61830970C>T	ENST00000280772.2	-	37	9860	c.9669G>A	c.(9667-9669)gtG>gtA	p.V3223V	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						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						CTGTTTCCTCCACTGTAGTCT	0.473000													6	202					0	0	1	0	0
GABRG2	2566	broad.mit.edu	37	5	161580368	161580368	+	Nonsense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:161580368C>A	ENST00000356592.3	+	10	1882	c.1422C>A	c.(1420-1422)taC>taA	p.Y474*	GABRG2_ENST00000361925.4_Nonsense_Mutation_p.Y466*|GABRG2_ENST00000393933.4_Nonsense_Mutation_p.Y371*|GABRG2_ENST00000414552.2_Nonsense_Mutation_p.Y514*	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	466					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		CCTACCTCTACCTGTGAGGAG	0.443000													74	114					1.07363e-35	1.22701e-35	1	1	0
MALAT1	378938	broad.mit.edu	37	11	65268731	65268731	+	RNA	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:65268731C>T	ENST00000534336.1	+	0	3499					NR_002819.2																						AATATGTTTTCAGTTCTTTTT	0.403000													12	28					0	0	1	0	0
ATP10D	57205	broad.mit.edu	37	4	47574247	47574247	+	Splice_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:47574247G>A	ENST00000273859.3	+	17	3509	c.3240G>A	c.(3238-3240)caG>caA	p.Q1080Q		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1080					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AAGGCATGCAGGTGAGTGGAT	0.498000													29	34					0	0	1	0	0
PKHD1	5314	broad.mit.edu	37	6	51887631	51887631	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:51887631G>A	ENST00000371117.3	-	33	5623	c.5348C>T	c.(5347-5349)tCt>tTt	p.S1783F	PKHD1_ENST00000340994.4_Missense_Mutation_p.S1783F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1783					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GCTGAAGGCAGACACTGTAGC	0.473000													38	40					0	0	1	0	0
MOSPD2	158747	broad.mit.edu	37	X	14932633	14932633	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:14932633A>C	ENST00000380492.3	+	11	1089	c.1001A>C	c.(1000-1002)gAa>gCa	p.E334A	MOSPD2_ENST00000495110.1_3'UTR|MOSPD2_ENST00000482354.1_Missense_Mutation_p.E334A	NM_001177475.1|NM_152581.3	NP_001170946.1|NP_689794.1	Q8NHP6	MSPD2_HUMAN	motile sperm domain containing 2	334	MSP.					integral to membrane	structural molecule activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	Hepatocellular(33;0.183)					AGCCCAGCAGAAGAACTGTAC	0.299000													31	2					0	0	1	0	0
DCST2	127579	broad.mit.edu	37	1	154995910	154995910	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:154995910G>A	ENST00000368424.3	-	13	1952	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C		NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	632						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TCCAGGAGGCGGAAGCAAGTG	0.612000													8	25					0	0	1	0	0
NFATC1	4772	broad.mit.edu	37	18	77171093	77171093	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:77171093G>T	ENST00000253506.5	+	2	1187	c.818G>T	c.(817-819)cGg>cTg	p.R273L	NFATC1_ENST00000591814.1_Missense_Mutation_p.R273L|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.R273L|NFATC1_ENST00000592223.1_Missense_Mutation_p.R260L|NFATC1_ENST00000586434.1_Missense_Mutation_p.R260L|NFATC1_ENST00000587635.1_Missense_Mutation_p.R273L|NFATC1_ENST00000329101.4_Missense_Mutation_p.R260L|NFATC1_ENST00000318065.5_Missense_Mutation_p.R260L|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000542384.1_Missense_Mutation_p.R273L	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	273	3 X SP repeats.				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTCAACGGCCGGCAGCCGCCC	0.706000													13	40					2.27111e-07	2.3828e-07	1	1	0
ZNF385D	79750	broad.mit.edu	37	3	21552450	21552450	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:21552450C>T	ENST00000281523.2	-	4	860	c.342G>A	c.(340-342)atG>atA	p.M114I	ZNF385D_ENST00000494118.1_5'UTR	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	114						nucleus	nucleic acid binding|zinc ion binding	p.M114I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GCTTATTTTTCATGGCTTCCA	0.463000													72	75					0	0	1	0	0
DNHD1	144132	broad.mit.edu	37	11	6590023	6590023	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:6590023C>G	ENST00000254579.6	+	39	13354	c.12790C>G	c.(12790-12792)Ctg>Gtg	p.L4264V	DNHD1_ENST00000527990.2_Missense_Mutation_p.L4264V	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	4264					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GGCACTACCTCTGCTCCTCCT	0.602000													17	14					0	0	1	0	0
CASC5	57082	broad.mit.edu	37	15	40939188	40939188	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:40939188G>A	ENST00000346991.5	+	18	6478	c.6088G>A	c.(6088-6090)Gag>Aag	p.E2030K	CASC5_ENST00000399668.2_Missense_Mutation_p.E2004K			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2030	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TATTTAGAATGAGAGGGAGAA	0.303000													22	27					0	0	1	0	0
ANKHD1	54882	broad.mit.edu	37	5	139889343	139889343	+	Missense_Mutation	SNP	T	T	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr5:139889343T>C	ENST00000297183.6	+	21	4011	c.3887T>C	c.(3886-3888)tTa>tCa	p.L1296S	ANKHD1_ENST00000360839.2_Missense_Mutation_p.L1296S|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.L1296S	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATACTGCTTTAACAATAGCA	0.408000													27	26					0	0	1	0	0
TOM1	10043	broad.mit.edu	37	22	35726432	35726432	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:35726432C>T	ENST00000382034.5	+	9	999	c.657C>T	c.(655-657)atC>atT	p.I219I	TOM1_ENST00000411850.1_Silent_p.I286I|TOM1_ENST00000449058.2_Silent_p.I286I|TOM1_ENST00000447733.1_Silent_p.I253I|TOM1_ENST00000425375.1_Silent_p.I241I|TOM1_ENST00000436462.2_Silent_p.I248I			O60784	TOM1_HUMAN	target of myb1 (chicken)	286	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						AGCTGCTCATCGTCAATGACA	0.612000													4	127					0	0	1	0	0
ERBB4	2066	broad.mit.edu	37	2	212285209	212285209	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:212285209G>A	ENST00000342788.4	-	25	3402	c.3092C>T	c.(3091-3093)cCa>cTa	p.P1031L	ERBB4_ENST00000402597.1_Missense_Mutation_p.P1021L|ERBB4_ENST00000436443.1_Missense_Mutation_p.P1031L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	1031					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GATGGGAGGTGGGATGTTGAA	0.373000										TSP Lung(8;0.080)			4	70					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815124	43815124	+	Missense_Mutation	SNP	A	A	C	rs2584715		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43815124A>C	ENST00000382031.1	+	5	2198	c.2167A>C	c.(2167-2169)Aaa>Caa	p.K723Q	MAP1A_ENST00000300231.5_Missense_Mutation_p.K485Q|MAP1A_ENST00000399453.1_Missense_Mutation_p.K485Q			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	485						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGGAAGAGTCAAAATAGACAG	0.527000													8	33					0	0	1	0	0
SLC27A1	376497	broad.mit.edu	37	19	17611152	17611152	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:17611152C>A	ENST00000252595.7	+	8	1369	c.1272C>A	c.(1270-1272)gtC>gtA	p.V424V	SLC27A1_ENST00000442725.1_Silent_p.V424V|SLC27A1_ENST00000598848.1_3'UTR|SLC27A1_ENST00000598424.1_Silent_p.V245V|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	424	Sufficient for oligomerization (By similarity).				cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGTGAAGGTCAATGAGGACA	0.662000													29	127					4.22769e-11	4.49705e-11	1	1	0
ZNF532	55205	broad.mit.edu	37	18	56601746	56601746	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:56601746C>A	ENST00000336078.4	+	5	3204	c.2428C>A	c.(2428-2430)Ccc>Acc	p.P810T	ZNF532_ENST00000589288.1_Missense_Mutation_p.P810T|ZNF532_ENST00000591083.1_Missense_Mutation_p.P810T|ZNF532_ENST00000591230.1_Missense_Mutation_p.P810T|ZNF532_ENST00000591808.1_Missense_Mutation_p.P810T	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	810					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCACAAATCTCCCTACACCTG	0.522000													59	91					1.4709e-25	1.65154e-25	1	1	0
PDXDC2P	283970	broad.mit.edu	37	16	70010467	70010467	+	RNA	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:70010467G>T	ENST00000531894.1	-	0	3916					NR_003610.1																						AGGGGAATAAGAAGACATTCG	0.493000													24	0					1.42536e-11	1.52461e-11	1	1	0
ZCCHC14	23174	broad.mit.edu	37	16	87493735	87493735	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:87493735G>A	ENST00000268616.4	-	2	379	c.162C>T	c.(160-162)atC>atT	p.I54I		NM_015144.2	NP_055959.1	Q8WYQ9	ZCH14_HUMAN	zinc finger, CCHC domain containing 14	54			I -> V (in dbSNP:rs11648852).		cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		TTCTTGGAGTGATCTGAGGGA	0.443000													8	153					0	0	1	0	0
PRG4	10216	broad.mit.edu	37	1	186270750	186270750	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:186270750G>A	ENST00000445192.2	+	4	271	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PRG4_ENST00000367486.3_Missense_Mutation_p.E76K|PRG4_ENST00000367485.4_Missense_Mutation_p.E76K|PRG4_ENST00000367484.3_Missense_Mutation_p.E35K|PRG4_ENST00000367483.4_Missense_Mutation_p.E35K	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	76	SMB 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						CCGCTGCTTTGAGTCCTTCGA	0.483000													114	0					0	0	1	0	0
JUNB	3726	broad.mit.edu	37	19	12902839	12902839	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:12902839C>T	ENST00000302754.4	+	1	530	c.254C>T	c.(253-255)tCg>tTg	p.S85L		NM_002229.2	NP_002220.1	P17275	JUNB_HUMAN	jun B proto-oncogene	85						chromatin|nucleus	protein dimerization activity|transcription coactivator activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|kidney(1)|lung(3)	6						CTCGCCTCTTCGGAGCTGGAA	0.687000													4	21					0	0	1	0	0
PPRC1	23082	broad.mit.edu	37	10	103906993	103906993	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:103906993C>T	ENST00000278070.2	+	9	4283	c.4244C>T	c.(4243-4245)tCa>tTa	p.S1415L	PPRC1_ENST00000370012.1_Missense_Mutation_p.S382L|PPRC1_ENST00000413464.2_Intron|PPRC1_ENST00000489648.1_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1415	Arg-rich.|Necessary for interaction with CREB1 and NRF1.|Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GCCAGCCCCTCAAGCCAGGGC	0.612000													68	35					0	0	1	0	0
CASP1	834	broad.mit.edu	37	11	104897665	104897665	+	Nonsense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:104897665C>T	ENST00000533400.1	-	8	1055	c.1020G>A	c.(1018-1020)tgG>tgA	p.W340*	CASP1_ENST00000415981.2_Nonsense_Mutation_p.W24*|CASP1_ENST00000446369.1_Nonsense_Mutation_p.W199*|CASP1_ENST00000526568.1_Nonsense_Mutation_p.W247*|CASP1_ENST00000527979.1_Nonsense_Mutation_p.W303*|CASP1_ENST00000353247.5_Nonsense_Mutation_p.W24*|CASP1_ENST00000598974.1_Nonsense_Mutation_p.W340*|CASP1_ENST00000436863.3_Nonsense_Mutation_p.W340*|CASP1_ENST00000531166.1_Nonsense_Mutation_p.W24*|CASP1_ENST00000393136.4_Nonsense_Mutation_p.W319*|CASP1_ENST00000593315.1_Nonsense_Mutation_p.W319*|CASP1_ENST00000534497.1_Nonsense_Mutation_p.W199*|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000594519.1_Nonsense_Mutation_p.W199*|CASP1_ENST00000525825.1_Nonsense_Mutation_p.W319*	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	340					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TGGGATGTCTCCAAGAAACAT	0.403000													46	29					0	0	1	0	0
PDE5A	8654	broad.mit.edu	37	4	120517758	120517758	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:120517758A>C	ENST00000354960.3	-	3	1070	c.751T>G	c.(751-753)Ttc>Gtc	p.F251V	PDE5A_ENST00000264805.5_Missense_Mutation_p.F209V|PDE5A_ENST00000394439.1_Missense_Mutation_p.F199V	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	251	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	TCTGCATTGAACCGAGGATCC	0.328000													14	29					0	0	1	0	0
NLRP5	126206	broad.mit.edu	37	19	56538965	56538965	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:56538965C>T	ENST00000390649.3	+	7	1366	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	456	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACAAGGGTTGCGTGCGATCAT	0.592000													25	36					0	0	1	0	0
DSPP	1834	broad.mit.edu	37	4	88533799	88533799	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:88533799C>G	ENST00000399271.1	+	4	581	c.461C>G	c.(460-462)aCt>aGt	p.T154S	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000282478.7_Missense_Mutation_p.T154S	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	154					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AGAAGCAACACTAATGGAAAT	0.438000													22	31					0	0	1	0	0
FAM209A	200232	broad.mit.edu	37	20	55101119	55101119	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:55101119C>G	ENST00000371328.3	+	2	832	c.509C>G	c.(508-510)tCt>tGt	p.S170C	FAM209A_ENST00000481560.1_3'UTR	NM_001012971.3	NP_001012989.2			family with sequence similarity 209, member A																		GAAGAAAGCTCTAGCTGAATG	0.408000													25	50					0	0	1	0	0
AVPR1B	553	broad.mit.edu	37	1	206225298	206225298	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:206225298C>T	ENST00000367126.4	+	1	1323	c.858C>T	c.(856-858)atC>atT	p.I286I		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	286					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCTTTGTCATCGTGCTGGCCT	0.572000													72	54					0	0	1	0	0
XYLB	9942	broad.mit.edu	37	3	38401846	38401846	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:38401846C>G	ENST00000207870.3	+	3	247	c.157C>G	c.(157-159)Cat>Gat	p.H53D	XYLB_ENST00000542835.1_Intron	NM_005108.3	NP_005099.2	O75191	XYLB_HUMAN	xylulokinase homolog (H. influenzae)	53					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		GGGTGGTGTTCATGTGCACAA	0.532000													93	96					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65269171	65269171	+	RNA	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:65269171C>T	ENST00000534336.1	+	0	3939					NR_002819.2																						GAAGAGTATTCCCAGTTGAAG	0.453000													24	48					0	0	1	0	0
NRXN1	9378	broad.mit.edu	37	2	50733754	50733754	+	Splice_Site	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:50733754G>T	ENST00000404971.1	-	14	3835	c.2496C>A	c.(2494-2496)agC>agA	p.S832R	NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000406859.3_Splice_Site_p.S792R|NRXN1_ENST00000401669.2_Splice_Site_p.S792R|NRXN1_ENST00000402717.3_Splice_Site_p.S784R|NRXN1_ENST00000406316.2_Splice_Site_p.S792R|NRXN1_ENST00000405472.3_Splice_Site_p.S784R	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	792	Laminin G-like 4.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGGGACCTTTGCCTGTAGAAT	0.458000													7	66					2.0095e-06	2.09118e-06	1	1	0
MOGAT2	80168	broad.mit.edu	37	11	75439964	75439964	+	Silent	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:75439964C>G	ENST00000526712.1	+	4	1307	c.534C>G	c.(532-534)ctC>ctG	p.L178L	MOGAT2_ENST00000198801.5_Silent_p.L260L			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	260					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					CCCTCCCACTCTTTCATGGCC	0.537000													82	46					0	0	1	0	0
ITCH	83737	broad.mit.edu	37	20	33067581	33067581	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:33067581G>A	ENST00000374864.4	+	18	2018	c.1805G>A	c.(1804-1806)aGa>aAa	p.R602K	ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Missense_Mutation_p.R643K|ITCH_ENST00000535650.1_Missense_Mutation_p.R492K	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	643	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TTTATTGGCAGATTTATTGCC	0.368000													38	30					0	0	1	0	0
TTC23	64927	broad.mit.edu	37	15	99696485	99696485	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:99696485C>T	ENST00000394132.2	-	12	1828	c.1011G>A	c.(1009-1011)ctG>ctA	p.L337L	TTC23_ENST00000394130.1_Silent_p.L337L|TTC23_ENST00000394136.1_Silent_p.L337L|TTC23_ENST00000262074.4_Silent_p.L337L|TTC23_ENST00000558663.1_Silent_p.L337L|TTC23_ENST00000558613.1_Silent_p.L337L|TTC23_ENST00000394129.2_Silent_p.L337L|TTC23_ENST00000394135.3_Silent_p.L337L			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	337							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GGGACTCTCTCAGGATCGAGG	0.502000													58	36					0	0	1	0	0
XRRA1	143570	broad.mit.edu	37	11	74641373	74641373	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:74641373G>C	ENST00000340360.6	-	6	703	c.372C>G	c.(370-372)atC>atG	p.I124M	XRRA1_ENST00000527087.1_Missense_Mutation_p.I124M|XRRA1_ENST00000533598.1_5'UTR|XRRA1_ENST00000321448.8_De_novo_Start_InFrame	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	124					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						CTGAGGCATTGATATAAATCA	0.393000													2	5					0	0	1	0	0
PTPN22	26191	broad.mit.edu	37	1	114380326	114380326	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:114380326G>A	ENST00000359785.5	-	13	1831	c.1696C>T	c.(1696-1698)Ctg>Ttg	p.L566L	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Silent_p.L566L|PTPN22_ENST00000538253.1_Silent_p.L322L|PTPN22_ENST00000525799.1_Silent_p.L439L|PTPN22_ENST00000528414.1_Silent_p.L511L	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	566					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGCAACAGAGAAGAAGGA	0.383000													77	45					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815610	43815610	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43815610G>A	ENST00000382031.1	+	5	2684	c.2653G>A	c.(2653-2655)Gaa>Aaa	p.E885K	MAP1A_ENST00000300231.5_Missense_Mutation_p.E647K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E647K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	647						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGTGAACCTGAAGTAAAGGA	0.488000													15	27					0	0	1	0	0
KRT82	3888	broad.mit.edu	37	12	52788848	52788848	+	Missense_Mutation	SNP	C	C	T	rs140708995		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:52788848C>T	ENST00000257974.2	-	9	1530	c.1453G>A	c.(1453-1455)Gag>Aag	p.E485K	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	485	Tail.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		CCCTGGGGCTCGCAGGGGACA	0.642000													29	73					0	0	1	0	0
PSMA8	143471	broad.mit.edu	37	18	23731808	23731808	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr18:23731808G>C	ENST00000308268.6	+	3	323	c.234G>C	c.(232-234)ttG>ttC	p.L78F	PSMA8_ENST00000343848.6_Intron|PSMA8_ENST00000415576.2_Intron	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	78					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|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|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GTGAAGTTTTGACAATTTTTA	0.358000													77	28					0	0	1	0	0
SMARCA4	6597	broad.mit.edu	37	19	11152120	11152120	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:11152120G>C	ENST00000358026.2	+	31	4688	c.4404G>C	c.(4402-4404)gaG>gaC	p.E1468D	SMARCA4_ENST00000450717.3_Missense_Mutation_p.E1406D|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E1436D|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E1406D|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E1406D|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E1406D|SMARCA4_ENST00000429416.3_Missense_Mutation_p.E1436D|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E1403D|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E1403D|SMARCA4_ENST00000538456.3_3'UTR	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1436					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGGACGACGAGAGCAAGAAGC	0.617000			"""F, N, Mis"""		NSCLC								22	11					0	0	1	0	0
STS	412	broad.mit.edu	37	X	7175544	7175544	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:7175544C>T	ENST00000217961.4	+	4	532	c.312C>T	c.(310-312)ttC>ttT	p.F104F		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	104					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	TTTTCCTCTTCACAGCCTCTT	0.498000									Ichthyosis				4	69					0	0	1	0	0
DENND5B	160518	broad.mit.edu	37	12	31568364	31568364	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:31568364C>T	ENST00000389082.5	-	12	2753	c.2489G>A	c.(2488-2490)aGa>aAa	p.R830K	DENND5B_ENST00000536562.1_Missense_Mutation_p.R865K|DENND5B_ENST00000306833.6_Missense_Mutation_p.R865K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	830	RUN 1.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGATTTTCTTCTTTCTGGTCC	0.333000													4	23					0	0	1	0	0
COL5A1	1289	broad.mit.edu	37	9	137704337	137704337	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:137704337G>A	ENST00000371817.3	+	47	4147	c.3733G>A	c.(3733-3735)Gtg>Atg	p.V1245M		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1245	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GACAGGAGACGTGGGCCAGAT	0.537000													45	35					0	0	1	0	0
CHST15	51363	broad.mit.edu	37	10	125801927	125801927	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:125801927T>G	ENST00000346248.5	-	4	1565	c.923A>C	c.(922-924)tAt>tCt	p.Y308S	CHST15_ENST00000435907.1_Missense_Mutation_p.Y308S|CHST15_ENST00000421115.1_Missense_Mutation_p.Y308S	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	308					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TTCCACGGGATAGCGGTCTCG	0.537000													41	32					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65270535	65270535	+	RNA	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:65270535G>C	ENST00000534336.1	+	0	5303					NR_002819.2																						GATGAGTTGGGATCAAGTGGA	0.393000													4	18					0	0	1	0	0
RBMXL2	27288	broad.mit.edu	37	11	7111126	7111126	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:7111126G>A	ENST00000306904.5	+	1	962	c.775G>A	c.(775-777)Gac>Aac	p.D259N		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	259	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGCTACAGCGACCGAGACGG	0.662000													19	46					0	0	1	0	0
WAC	51322	broad.mit.edu	37	10	28906604	28906604	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:28906604G>C	ENST00000375664.4	+	13	2239	c.1630G>C	c.(1630-1632)Gaa>Caa	p.E544Q	WAC_ENST00000354911.4_Missense_Mutation_p.E589Q|WAC_ENST00000347934.4_Missense_Mutation_p.E486Q|WAC_ENST00000375646.1_Missense_Mutation_p.E437Q			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						ATTACGCGAAGAAGCGCATAA	0.289000													14	29					0	0	1	0	0
ACIN1	22985	broad.mit.edu	37	14	23548812	23548812	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr14:23548812C>G	ENST00000262710.1	-	6	2233	c.1906G>C	c.(1906-1908)Gag>Cag	p.E636Q	ACIN1_ENST00000555053.1_Missense_Mutation_p.E636Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.E578Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.E596Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	636	Ser-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GATCTGGACTCTGATGTTGAT	0.488000													95	106					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2529730	2529730	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:2529730C>T	ENST00000288709.6	-	13	1401	c.1161G>A	c.(1159-1161)caG>caA	p.Q387Q	MMEL1_ENST00000378412.3_Silent_p.Q396Q|MMEL1_ENST00000502556.1_Silent_p.Q239Q	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	396					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CCAGGTAGTTCTGTATGGTCC	0.582000													20	56					0	0	1	0	0
RNF128	79589	broad.mit.edu	37	X	106038818	106038818	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:106038818C>G	ENST00000255499.2	+	7	1412	c.1162C>G	c.(1162-1164)Cta>Gta	p.L388V	RNF128_ENST00000324342.3_Missense_Mutation_p.L362V	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	388						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						AGATGAAAGTCTACAGCTGGT	0.358000													48	54					0	0	1	0	0
AQP2	359	broad.mit.edu	37	12	50344837	50344837	+	Missense_Mutation	SNP	G	G	T	rs144443773		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:50344837G>T	ENST00000199280.3	+	1	309	c.224G>T	c.(223-225)tGc>tTc	p.C75F		NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	75					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						ACTGTGGCCTGCCTGGTGGGC	0.647000													11	40					3.07112e-06	3.18732e-06	1	1	0
KIAA1551	55196	broad.mit.edu	37	12	32140179	32140179	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:32140179G>C	ENST00000312561.4	+	5	5423	c.5009G>C	c.(5008-5010)gGa>gCa	p.G1670A	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639			KIAA1551																		ATAGTTTCAGGAATAAAAAGT	0.289000													10	35					0	0	1	0	0
ASXL1	171023	broad.mit.edu	37	20	31023537	31023537	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr20:31023537C>T	ENST00000375687.4	+	13	3446	c.3022C>T	c.(3022-3024)Cac>Tac	p.H1008Y	ASXL1_ENST00000306058.5_Missense_Mutation_p.H1003Y	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	1008					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CTTTGAAGGTCACCTCACGGA	0.507000			"""F, N, Mis"""		"""MDS, CMML"""								4	113					0	0	1	0	0
TMEM38A	79041	broad.mit.edu	37	19	16790904	16790904	+	Silent	SNP	C	C	T	rs144587502		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:16790904C>T	ENST00000187762.2	+	2	325	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	78						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AGCCACTGATCGATTACTTCA	0.602000													45	74					0	0	1	0	0
ZNF878	729747	broad.mit.edu	37	19	12154731	12154731	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:12154731G>A	ENST00000602107.1	-	5	1625	c.1626C>T	c.(1624-1626)ctC>ctT	p.L542L	CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron|CTD-2006C1.2_ENST00000591898.1_RNA|ZNF878_ENST00000547628.1_Silent_p.L495L|CTD-2006C1.2_ENST00000591838.1_RNA			C9JN71	ZN878_HUMAN	zinc finger protein 878	495					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						TTTCATGGTAGAGAAAAGAGT	0.393000													21	39					0	0	1	0	0
GAB3	139716	broad.mit.edu	37	X	153944442	153944442	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:153944442C>G	ENST00000369575.3	-	2	266	c.235G>C	c.(235-237)Gaa>Caa	p.E79Q	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.E79Q	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	79	PH.									NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTCTGAAATTCCTTCCGAACA	0.502000													89	62					0	0	1	0	0
LRP2	4036	broad.mit.edu	37	2	170063662	170063662	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:170063662C>G	ENST00000263816.3	-	39	6853	c.6568G>C	c.(6568-6570)Gac>Cac	p.D2190H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2190					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTAGGCATGTCCACTGTGACT	0.428000													106	95					0	0	1	0	0
LACTB	114294	broad.mit.edu	37	15	63433729	63433729	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:63433729G>A	ENST00000261893.4	+	6	1441	c.1369G>A	c.(1369-1371)Gag>Aag	p.E457K	RPS27L_ENST00000559763.1_Intron	NM_032857.3	NP_116246.2	P83111	LACTB_HUMAN	lactamase, beta	457						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						TTGGGATAAAGAGGGTAAATA	0.433000													30	70					0	0	1	0	0
HSD3B1	3283	broad.mit.edu	37	1	120056930	120056930	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:120056930C>T	ENST00000235547.6	+	4	929	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	HSD3B1_ENST00000369413.3_Missense_Mutation_p.H262Y|HSD3B1_ENST00000528909.1_Missense_Mutation_p.H262Y	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	262					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	TGACACGCCTCACCAAAGCTA	0.522000													136	64					0	0	1	0	0
BSN	8927	broad.mit.edu	37	3	49692495	49692495	+	Nonsense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:49692495G>T	ENST00000296452.4	+	5	5620	c.5506G>T	c.(5506-5508)Gag>Tag	p.E1836*		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1836					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCAGTGCCAGAGCCAGGTGC	0.622000													33	114					7.11191e-15	7.73647e-15	1	1	0
ARID1A	8289	broad.mit.edu	37	1	27106421	27106421	+	Missense_Mutation	SNP	T	T	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:27106421T>G	ENST00000324856.7	+	20	6403	c.6032T>G	c.(6031-6033)cTg>cGg	p.L2011R	ARID1A_ENST00000540690.1_Missense_Mutation_p.L339R|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1794R|ARID1A_ENST00000374152.2_Missense_Mutation_p.L1628R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2011					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTGCTCATCCTGGGCAAGCTG	0.547000			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								35	77					0	0	1	0	0
NBEAL2	23218	broad.mit.edu	37	3	47040469	47040469	+	Translation_Start_Site	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:47040469G>A	ENST00000383740.2	+	0	3584				NBEAL2_ENST00000292309.5_Intron|NBEAL2_ENST00000450053.3_Silent_p.L1135L			Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2								binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CGCTGGACCTGCTGCTGGCCC	0.667000											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	5	16					0	0	1	0	0
ACADSB	36	broad.mit.edu	37	10	124813245	124813245	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr10:124813245G>A	ENST00000358776.4	+	11	1277	c.1263G>A	c.(1261-1263)ttG>ttA	p.L421L	ACADSB_ENST00000368869.4_Silent_p.L319L	NM_001609.3	NP_001600.1	P45954	ACDSB_HUMAN	acyl-CoA dehydrogenase, short/branched chain	421					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	ACATCCAGTTGAACACCATTG	0.438000													23	93					0	0	1	0	0
IL1RAP	3556	broad.mit.edu	37	3	190366273	190366273	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:190366273G>C	ENST00000412504.2	+	11	1744	c.1492G>C	c.(1492-1494)Gtc>Ctc	p.V498L	IL1RAP_ENST00000072516.3_Missense_Mutation_p.V498L|IL1RAP_ENST00000317757.3_Intron|IL1RAP_ENST00000439062.1_Missense_Mutation_p.V498L|IL1RAP_ENST00000443369.2_Intron|IL1RAP_ENST00000447382.1_Missense_Mutation_p.V498L			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	498	TIR.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		CAACATCAACGTCATTTTAGT	0.502000													59	139					0	0	1	0	0
TGFB1I1	7041	broad.mit.edu	37	16	31485480	31485480	+	Silent	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr16:31485480C>A	ENST00000394863.3	+	5	463	c.333C>A	c.(331-333)atC>atA	p.I111I	TGFB1I1_ENST00000567607.1_Silent_p.I94I|TGFB1I1_ENST00000361773.3_Silent_p.I94I|TGFB1I1_ENST00000394858.2_Silent_p.I94I	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	111	Interaction with PTK2 (By similarity).|Interaction with PTK2B.|Transcription activation (By similarity).				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CAGATGAAATCATGTCTCAGT	0.512000													29	24					4.74835e-14	5.13625e-14	1	1	0
SMARCA2	6595	broad.mit.edu	37	9	2104016	2104016	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr9:2104016C>T	ENST00000382203.1	+	23	3348	c.3139C>T	c.(3139-3141)Cgg>Tgg	p.R1047W	SMARCA2_ENST00000382194.1_Missense_Mutation_p.R1047W|SMARCA2_ENST00000357248.2_Missense_Mutation_p.R1047W|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R1047W			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1047					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGAACTGTATCGGGCCTCAGG	0.418000													120	93					0	0	1	0	0
GPT	2875	broad.mit.edu	37	8	145731256	145731256	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:145731256C>T	ENST00000394955.2	+	6	988	c.765C>T	c.(763-765)atC>atT	p.I255I	GPT_ENST00000528431.1_Silent_p.I255I	NM_005309.2	NP_005300.1	P24298	ALAT1_HUMAN	glutamic-pyruvate transaminase (alanine aminotransferase)	255					gluconeogenesis	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-alanine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCGAGTGCATCGAGGCCGTGA	0.736000													5	12					0	0	1	0	0
POLD1	5424	broad.mit.edu	37	19	50918133	50918133	+	Missense_Mutation	SNP	G	G	A	rs142017093		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:50918133G>A	ENST00000440232.2	+	20	2503	c.2450G>A	c.(2449-2451)cGg>cAg	p.R817Q	POLD1_ENST00000599857.1_Missense_Mutation_p.R817Q|POLD1_ENST00000595904.1_Missense_Mutation_p.R843Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	817					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		TTCTCCTCCCGGCCCGACGCC	0.667000								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	46	49					0	0	1	0	0
TIMELESS	8914	broad.mit.edu	37	12	56818910	56818910	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:56818910C>T	ENST00000229201.4	-	14	1756	c.1602G>A	c.(1600-1602)aaG>aaA	p.K534K	TIMELESS_ENST00000553532.1_Silent_p.K535K|TIMELESS_ENST00000554616.1_Intron	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	535					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						Ccttcttcttcttcttccttc	0.468000													67	36					0	0	1	0	0
MAP1A	4130	broad.mit.edu	37	15	43815622	43815622	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:43815622G>A	ENST00000382031.1	+	5	2696	c.2665G>A	c.(2665-2667)Gat>Aat	p.D889N	MAP1A_ENST00000300231.5_Missense_Mutation_p.D651N|MAP1A_ENST00000399453.1_Missense_Mutation_p.D651N			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	651						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGTAAAGGAGGATGTGATAGA	0.473000													15	26					0	0	1	0	0
DHRSX	207063	broad.mit.edu	37	X	2209621	2209621	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:2209621C>T	ENST00000334651.5	-	4	362	c.310G>A	c.(310-312)Gct>Act	p.A104T		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	104							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				GTCATGGAAGCCAAGTCACAG	0.398000													186	150					0	0	1	0	0
FES	2242	broad.mit.edu	37	15	91428341	91428341	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:91428341C>T	ENST00000328850.3	+	2	208	c.66C>T	c.(64-66)gcC>gcT	p.A22A	FES_ENST00000450438.2_Silent_p.A22A|FES_ENST00000414248.2_Silent_p.A22A|FES_ENST00000444422.2_Silent_p.A22A|FES_ENST00000394300.3_Silent_p.A22A|FES_ENST00000394302.1_Silent_p.A22A	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	22	FCH.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A22A(1)		lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGGAGGCCGAGCTTCGTC	0.602000													78	125					0	0	1	0	0
ATP10A	57194	broad.mit.edu	37	15	25958905	25958905	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:25958905G>A	ENST00000356865.6	-	10	2371	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	754					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGCGGGTGCCGGATCACCACT	0.607000													31	65					0	0	1	0	0
ARAP1	116985	broad.mit.edu	37	11	72423574	72423574	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:72423574C>A	ENST00000359373.5	-	6	1638	c.787G>T	c.(787-789)Gtg>Ttg	p.V263L	ARAP1_ENST00000393609.3_Missense_Mutation_p.V263L|ARAP1_ENST00000393605.3_Missense_Mutation_p.V23L|ARAP1_ENST00000426523.1_Missense_Mutation_p.V18L|ARAP1_ENST00000429686.1_Missense_Mutation_p.V18L|ARAP1_ENST00000334211.8_Missense_Mutation_p.V18L|ARAP1_ENST00000455638.2_Missense_Mutation_p.V263L			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	263					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AGACTGGCCACGCGCACGGCC	0.657000													138	80					3.73298e-82	4.38369e-82	1	1	0
PRX	57716	broad.mit.edu	37	19	40901226	40901226	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:40901226C>T	ENST00000324001.7	-	7	3303	c.3033G>A	c.(3031-3033)ggG>ggA	p.G1011G	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1011					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGGTCGGCCCCTGCCACCT	0.647000													72	80					0	0	1	0	0
ASUN	55726	broad.mit.edu	37	12	27068949	27068949	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:27068949C>T	ENST00000261191.7	-	11	1770	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	ASUN_ENST00000539625.1_Missense_Mutation_p.D311N	NM_018164.2	NP_060634.2	Q9NVM9	M89BB_HUMAN	asunder spermatogenesis regulator	412					cell division|mitosis|regulation of mitotic cell cycle		protein binding										ATCCGGTAGTCTGTAACTCTT	0.383000													32	29					0	0	1	0	0
SYCE2	256126	broad.mit.edu	37	19	13015434	13015434	+	Missense_Mutation	SNP	A	A	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:13015434A>C	ENST00000293695.7	-	3	196	c.178T>G	c.(178-180)Ttc>Gtc	p.F60V	SYCE2_ENST00000591229.1_5'UTR	NM_001105578.1	NP_001099048.1	Q6PIF2	SYCE2_HUMAN	synaptonemal complex central element protein 2	60					cell division	central element				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(1)	8						AGAGAGGAGAAGTAGAGTCCC	0.542000													8	196					0	0	1	0	0
POTEH	23784	broad.mit.edu	37	22	16287423	16287423	+	Missense_Mutation	SNP	C	C	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr22:16287423C>A	ENST00000343518.6	-	1	514	c.463G>T	c.(463-465)Ggc>Tgc	p.G155C		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	155										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCCCAAGGGCCCACTTTGTTC	0.592000													4	121					1.024e-07	1.08026e-07	1	1	0
SEMA6B	10501	broad.mit.edu	37	19	4550226	4550226	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:4550226C>T	ENST00000586582.1	-	12	1490	c.1180G>A	c.(1180-1182)Gac>Aac	p.D394N	SEMA6B_ENST00000586965.1_Missense_Mutation_p.D394N|SEMA6B_ENST00000301293.3_Missense_Mutation_p.D394N	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	394	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAGGATGTCATCCGGCAAG	0.642000													37	31					0	0	1	0	0
SOWAHB	345079	broad.mit.edu	37	4	77817830	77817830	+	Silent	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:77817830G>T	ENST00000334306.2	-	1	1172	c.1173C>A	c.(1171-1173)ctC>ctA	p.L391L		NM_001029870.1	NP_001025041.1	A6NEL2	ANR56_HUMAN	sosondowah ankyrin repeat domain family member B	391																	CCAGATCTTGGAGGGACAGCT	0.577000													30	113					9.78306e-22	1.0889e-21	1	1	0
DAAM2	23500	broad.mit.edu	37	6	39847178	39847178	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:39847178C>T	ENST00000538976.1	+	14	1952	c.1770C>T	c.(1768-1770)gaC>gaT	p.D590D	DAAM2_ENST00000274867.4_Silent_p.D590D|DAAM2_ENST00000398904.2_Silent_p.D590D	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	590	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCAGCAGTGACGTCCCACTCA	0.652000													32	39					0	0	1	0	0
BBX	56987	broad.mit.edu	37	3	107435578	107435578	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:107435578C>T	ENST00000415149.2	+	5	614	c.287C>T	c.(286-288)tCt>tTt	p.S96F	BBX_ENST00000416476.2_Missense_Mutation_p.S96F|BBX_ENST00000325805.8_Missense_Mutation_p.S96F|BBX_ENST00000406780.1_Missense_Mutation_p.S96F|BBX_ENST00000402543.1_Missense_Mutation_p.S96F	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CGCCATCGCTCTCTTGTACGT	0.463000													111	68					0	0	1	0	0
REST	5978	broad.mit.edu	37	4	57777573	57777573	+	Missense_Mutation	SNP	A	A	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:57777573A>G	ENST00000309042.7	+	2	1083	c.769A>G	c.(769-771)Aca>Gca	p.T257A	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	257					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CACATACACAACAGTGAGCGA	0.383000													45	40					0	0	1	0	0
CD5L	922	broad.mit.edu	37	1	157803224	157803224	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:157803224C>G	ENST00000368174.4	-	5	893	c.797G>C	c.(796-798)gGc>gCc	p.G266A		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	266	SRCR 3.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ACAGACAGAGCCCCATACGCC	0.567000													47	129					0	0	1	0	0
GPI	2821	broad.mit.edu	37	19	34884660	34884660	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:34884660C>T	ENST00000415930.3	+	11	1096	c.926C>T	c.(925-927)tCg>tTg	p.S309L	GPI_ENST00000586425.1_Missense_Mutation_p.S298L|GPI_ENST00000356487.5_Missense_Mutation_p.S298L	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	298					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					CAGCTGCTCTCGGGGGCTCAC	0.602000													74	92					0	0	1	0	0
USO1	8615	broad.mit.edu	37	4	76721825	76721825	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:76721825G>C	ENST00000538159.1	+	17	1764	c.1764G>C	c.(1762-1764)gaG>gaC	p.E588D	USO1_ENST00000514213.2_Missense_Mutation_p.E564D			O60763	USO1_HUMAN	USO1 vesicle transport factor	579	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ATTTCATAGAGAAACTAGGAT	0.348000													38	25					0	0	1	0	0
MAATS1	89876	broad.mit.edu	37	3	119456222	119456222	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:119456222G>C	ENST00000273390.5	+	11	1431	c.1354G>C	c.(1354-1356)Gat>Cat	p.D452H		NM_033364.3	NP_203528			MYCBP-associated, testis expressed 1																		GGCACTGTTGGATAAGAAGAA	0.338000													21	68					0	0	1	0	0
ETFDH	2110	broad.mit.edu	37	4	159627494	159627494	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr4:159627494G>A	ENST00000511912.1	+	11	1771	c.1439G>A	c.(1438-1440)gGa>gAa	p.G480E	ETFDH_ENST00000307738.5_Missense_Mutation_p.G433E	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	480					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		ATATTGAGAGGAATGGAGCCG	0.378000													22	30					0	0	1	0	0
VPS13B	157680	broad.mit.edu	37	8	100443874	100443874	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr8:100443874G>A	ENST00000395996.1	+	22	3303	c.3192G>A	c.(3190-3192)gtG>gtA	p.V1064V	VPS13B_ENST00000358544.2_Silent_p.V1064V|VPS13B_ENST00000357162.2_Silent_p.V1064V			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1064					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGAATGCAGTGAAGCATCTCA	0.308000													18	54					0	0	1	0	0
PLA1A	51365	broad.mit.edu	37	3	119344030	119344030	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:119344030G>A	ENST00000273371.4	+	9	1144	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K	PLA1A_ENST00000488919.1_Missense_Mutation_p.E185K|PLA1A_ENST00000494440.1_Missense_Mutation_p.E342K|PLA1A_ENST00000495992.1_Missense_Mutation_p.E342K	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	358					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CACCAACATCGAGGTTACCTT	0.483000													51	27					0	0	1	0	0
MALAT1	378938	broad.mit.edu	37	11	65271036	65271036	+	RNA	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr11:65271036G>A	ENST00000534336.1	+	0	5804					NR_002819.2																						TACATGTTGTGATGTAAATTG	0.269000													36	54					0	0	1	0	0
SLC9A7P1	121456	broad.mit.edu	37	12	98849061	98849061	+	RNA	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:98849061C>T	ENST00000554295.1	-	0	1862					NR_033801.1																						TGGTGGTTAGCGGGGAGCCGC	0.582000													15	11					0	0	1	0	0
ZNF788	388507	broad.mit.edu	37	19	12223080	12223080	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr19:12223080C>G	ENST00000339302.4	+	3	1355	c.718C>G	c.(718-720)Cag>Gag	p.Q240E	ZNF20_ENST00000600335.1_Intron|ZNF788_ENST00000430298.2_3'UTR					zinc finger family member 788											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						GAGCGGCCTTCAGGTACATGA	0.398000													19	5					0	0	1	0	0
ZDBF2	57683	broad.mit.edu	37	2	207172029	207172029	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:207172029C>T	ENST00000374423.3	+	5	3163	c.2777C>T	c.(2776-2778)tCa>tTa	p.S926L		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	926							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTTTTCATTCAGTGACTGGA	0.318000													18	40					0	0	1	0	0
IQCJ	654502	broad.mit.edu	37	3	158983102	158983102	+	Silent	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:158983102C>T	ENST00000482126.1	+	4	414	c.309C>T	c.(307-309)ctC>ctT	p.L103L	IQCJ-SCHIP1_ENST00000485419.1_Intron|IQCJ_ENST00000451172.1_Silent_p.L130L|IQCJ-SCHIP1_ENST00000476809.1_Intron|IQCJ-SCHIP1_ENST00000467442.1_Intron	NM_001197100.1	NP_001184029.1			IQ motif containing J											cervix(1)|endometrium(2)|large_intestine(2)|lung(10)	15			LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534)			TGATTCTTCTCTACCTTGACC	0.512000													74	58					0	0	1	0	0
LY6G6D	58530	broad.mit.edu	37	6	31675751	31675751	+	Silent	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:31675751G>A	ENST00000503322.1	+	3	489	c.486G>A	c.(484-486)ggG>ggA	p.G162G	XXbac-BPG32J3.20_ENST00000461287.1_Intron|LY6G6F_ENST00000375832.4_Silent_p.G162G|LY6G6F_ENST00000556581.1_Silent_p.G162G																							GGCAGGAAGGGAAGGGTCCCG	0.627000													51	79					0	0	1	0	0
STAMBP	10617	broad.mit.edu	37	2	74074811	74074811	+	Missense_Mutation	SNP	G	G	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:74074811G>T	ENST00000394070.2	+	5	1176	c.673G>T	c.(673-675)Gta>Tta	p.V225L	STAMBP_ENST00000409707.1_Missense_Mutation_p.V225L|STAMBP_ENST00000536064.1_Intron|STAMBP_ENST00000394073.1_Missense_Mutation_p.V225L|STAMBP_ENST00000339566.3_Missense_Mutation_p.V225L	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	225					JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						TCACACAACTGTAAGGCCAGC	0.517000													23	153					3.5997e-14	3.90476e-14	1	1	0
NR4A2	4929	broad.mit.edu	37	2	157182439	157182439	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:157182439G>A	ENST00000409108.2	-	8	1551	c.1510C>T	c.(1510-1512)Cgt>Tgt	p.R504C	NR4A2_ENST00000539077.1_Silent_p.H549H|NR4A2_ENST00000409572.1_Silent_p.H538H|NR4A2_ENST00000429376.1_Missense_Mutation_p.R441C|NR4A2_ENST00000426264.1_Silent_p.H475H|NR4A2_ENST00000339562.4_Silent_p.H538H			P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	0					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.H538H(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TGAAAGTCACGTGGTCTTTGA	0.463000													28	60					0	0	1	0	0
ZNF804B	219578	broad.mit.edu	37	7	88963539	88963539	+	Missense_Mutation	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:88963539G>C	ENST00000333190.4	+	4	1852	c.1243G>C	c.(1243-1245)Gat>Cat	p.D415H		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	415						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAAATCTTTAGATAAAACAGA	0.368000										HNSCC(36;0.09)			9	94					0	0	1	0	0
SACS	26278	broad.mit.edu	37	13	23929191	23929191	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr13:23929191C>G	ENST00000382298.3	-	8	2148	c.1560G>C	c.(1558-1560)aaG>aaC	p.K520N	SACS_ENST00000382292.3_Missense_Mutation_p.K520N|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	520					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AATCAGAGCTCTTTTCCATCT	0.453000													63	112					0	0	1	0	0
KRT83	3889	broad.mit.edu	37	12	52713085	52713085	+	Missense_Mutation	SNP	C	C	G			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr12:52713085C>G	ENST00000293670.3	-	2	510	c.448G>C	c.(448-450)Gag>Cag	p.E150Q		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	150	Linker 1.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCAGCACTCGCGGTTTTGG	0.607000													111	62					0	0	1	0	0
TARS2	80222	broad.mit.edu	37	1	150479442	150479442	+	Missense_Mutation	SNP	G	G	A			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:150479442G>A	ENST00000369064.3	+	18	2093	c.2059G>A	c.(2059-2061)Gat>Aat	p.D687N	TARS2_ENST00000606933.1_Missense_Mutation_p.D605N|TARS2_ENST00000369054.2_Missense_Mutation_p.D557N	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	687					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	TCGGACTCGAGATAATCGTCG	0.522000													35	186					0	0	1	0	0
FBLN2	2199	broad.mit.edu	37	3	13660497	13660497	+	Missense_Mutation	SNP	C	C	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr3:13660497C>T	ENST00000404922.3	+	7	2152	c.2033C>T	c.(2032-2034)cCg>cTg	p.P678L	FBLN2_ENST00000492059.1_Missense_Mutation_p.P678L|FBLN2_ENST00000535798.1_Missense_Mutation_p.P704L|FBLN2_ENST00000295760.7_Missense_Mutation_p.P678L	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	678						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTGCCACTGCCGCAGCCCAAT	0.622000													7	19					0	0	1	0	0
MMEL1	79258	broad.mit.edu	37	1	2530149	2530149	+	Silent	SNP	G	G	C			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:2530149G>C	ENST00000288709.6	-	12	1335	c.1095C>G	c.(1093-1095)gtC>gtG	p.V365V	MMEL1_ENST00000378412.3_Silent_p.V374V|MMEL1_ENST00000502556.1_Silent_p.V217V	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	374					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GGATGCCATAGACCACCACTT	0.517000													21	72					0	0	1	0	0
RPL22	6146	broad.mit.edu	37	1	6257784	6257785	+	Frame_Shift_Ins	INS	-	-	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr1:6257784_6257785insT	ENST00000234875.4	-	2	82_83	c.44_45insA	c.(43-45)aagfs	p.K15fs	RPL22_ENST00000484532.1_5'UTR|RPL22_ENST00000497965.1_5'UTR	NM_000983.3	NP_000974.1	P35268	RL22_HUMAN	ribosomal protein L22	15					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|RNA binding|structural constituent of ribosome	p.K15fs*5(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	Ovarian(185;0.0634)	all_cancers(23;2.78e-38)|all_epithelial(116;8.88e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.53e-38)|GBM - Glioblastoma multiforme(13;3.33e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.8e-19)|Colorectal(212;6.8e-08)|COAD - Colon adenocarcinoma(227;8.04e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GAACTTGCTTCTTTTTTTTGCC	0.401			T	RUNX1	"""AML, CML"""								38	20	---	---	---	---					
IGKV1OR2-118	339562	broad.mit.edu	37	2	90458508	90458508	+	Frame_Shift_Del	DEL	A	A	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr2:90458508delA	ENST00000603238.1	+	2	184	c.184delA	c.(184-186)aaafs	p.K62fs																								GAAACCAGGGAAAACTCCTAA	0.493													55	299	---	---	---	---					
LRFN2	57497	broad.mit.edu	37	6	40400554	40400557	+	Frame_Shift_Del	DEL	TCGA	TCGA	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr6:40400554_40400557delTCGA	ENST00000338305.6	-	2	838_841	c.296_299delTCGA	c.(295-300)ctcgagfs	p.LE99fs		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	99						cell junction|integral to membrane|postsynaptic membrane		p.L99L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCGGAGGCTCTCGAGGTCCAGAAA	0.603													14	37	---	---	---	---					
FAM126A	84668	broad.mit.edu	37	7	23004031	23004040	+	Splice_Site	DEL	TACAAGGCAA	TACAAGGCAA	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:23004031_23004040delTACAAGGCAA	ENST00000432176.2	-	8	969_976	c.737_744delTTGCCTTGTA	c.(736-744)tttgccttg>t	p.FAL246fs	FAM126A_ENST00000409923.1_Splice_Site_p.FAL246fs	NM_032581.3	NP_115970.2	Q9BYI3	HYCCI_HUMAN	family with sequence similarity 126, member A	246						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						ATGAGATACTTACAAGGCAAAATAAATCCC	0.300													32	34	---	---	---	---					
GTF2IRD2P1	401375	broad.mit.edu	37	7	72683455	72683456	+	RNA	INS	-	-	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:72683455_72683456insT	ENST00000425256.1	-	0	120																											CGTTCTACCAgtttttttttgt	0.441													14	242	---	---	---	---					
GAL3ST4	79690	broad.mit.edu	37	7	99758558	99758560	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr7:99758558_99758560delTGT	ENST00000360039.4	-	4	844_846	c.452_454delACA	c.(451-456)gacagc>ggc	p.151_152DS>G	GAL3ST4_ENST00000426974.2_In_Frame_Del_p.89_90DS>G|GAL3ST4_ENST00000423751.1_In_Frame_Del_p.T50del|GAL3ST4_ENST00000413800.1_In_Frame_Del_p.151_152DS>G|GAL3ST4_ENST00000411994.1_In_Frame_Del_p.T50del	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	151					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AAAAAGAAGCTGTCAGAAGGCAT	0.512													37	64	---	---	---	---					
FREM2	341640	broad.mit.edu	37	13	39261881	39261881	+	Frame_Shift_Del	DEL	G	G	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr13:39261881delG	ENST00000280481.7	+	1	616	c.400delG	c.(400-402)ggcfs	p.G134fs		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	134					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTTTGGCCCTGGCGAGGTGCG	0.716													9	17	---	---	---	---					
HERC2P9	440248	broad.mit.edu	37	15	28927410	28927411	+	RNA	INS	-	-	AGGGA			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr15:28927410_28927411insAGGGA	ENST00000528584.1	+	0	1811					NR_036443.1																						GGTTTAAAAATagggaagggaa	0.460													3	6	---	---	---	---					
SNORD3B-1	26851	broad.mit.edu	37	17	18965277	18965278	+	RNA	INS	-	-	T			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:18965277_18965278insT	ENST00000363359.1	+	0	53_54																											agaagtttctctgaacgtgtag	0.505													8	1	---	---	---	---					
KRT10	3858	broad.mit.edu	37	17	38978766	38978768	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chr17:38978766_38978768delTCC	ENST00000269576.5	-	1	79_81	c.70_72delGGA	c.(70-72)ggadel	p.G24del	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	24	Gly-rich.|Head.			Missing (in Ref. 1; AAA60544).	epidermis development		protein binding|structural constituent of epidermis			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ctcctccacatcctcctcctcct	0.547													7	91	---	---	---	---					
FTX	100302692	broad.mit.edu	37	X	73506653	73506654	+	RNA	INS	-	-	A	rs149262205		TCGA-FJ-A3ZF-01A-11D-A23M-08	TCGA-FJ-A3ZF-10A-01D-A23K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	55331efe-b1a3-410f-822f-d2512e1768a5	35abd07a-1ed0-4bf2-835d-043a633fcb80	g.chrX:73506653_73506654insA	ENST00000429124.1	-	0	174																											acctgtcccttaaaaaaaaaaa	0.455													7	7	---	---	---	---					
